{
"title": "HG002.GRCh38.small_variants.phased.preprocessed.filtered",
"timestamp": "2025-08-18T21:26:21.950Z",
"pharmcatVersion": "2.15.4",
"dataVersion": "2024-08-27-21-12",
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"messages": [
{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"message": "PharmCAT would have called rs2231142 reference (G)/rs2231142 reference (G) based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
"name": "rosuvastatin",
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}
],
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{
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},
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},
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"Normal Function"
],
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"activityScore": null,
"outsideActivityScore": false,
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"variant": null,
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"Normal Function"
],
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"combination": false,
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}
],
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{
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},
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"gene": "ABCG2",
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"Normal Function"
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}
],
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},
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"alleleDefinitionSource": "UNKNOWN",
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"matches": null,
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"message": "PharmCAT would have called Reference/Reference based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
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},
{
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{
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{
"name": "isoflurane",
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},
{
"name": "methoxyflurane",
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},
{
"name": "sevoflurane",
"id": "PA451341"
},
{
"name": "succinylcholine",
"id": "PA451522"
}
],
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{
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},
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"gene": "CACNA1S",
"name": "Reference",
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},
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"Uncertain Susceptibility"
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],
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{
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"Uncertain Susceptibility"
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"Uncertain Susceptibility"
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}
],
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},
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"geneSymbol": "CFTR",
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called Reference/Reference based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
"name": "ivacaftor",
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}
],
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{
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"function": "ivacaftor non-responsive",
"reference": true,
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},
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"function": "ivacaftor non-responsive",
"reference": true,
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},
"gene": "CFTR",
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"ivacaftor non-responsive in CF patients"
],
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"variant": null,
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}
],
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{
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"reference": true,
"activityValue": "n/a"
},
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"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
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},
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],
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}
],
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},
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"exception_type": "note",
"message": "PharmCAT would have called *2/*5 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
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{
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}
],
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{
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"reference": false,
"activityValue": "n/a"
},
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"gene": "CYP2B6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2B6",
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"Normal Metabolizer"
],
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"variant": null,
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}
],
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{
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"activityValue": "n/a"
},
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"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
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}
],
"variants": [],
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},
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"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
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"callSource": "OUTSIDE",
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"messages": [
{
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"matches": {
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"hapsCalled": [],
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"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
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{
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{
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{
"name": "brivaracetam",
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{
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{
"name": "citalopram",
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{
"name": "clobazam",
"id": "PA10888"
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{
"name": "clomipramine",
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},
{
"name": "clopidogrel",
"id": "PA449053"
},
{
"name": "dexlansoprazole",
"id": "PA166110257"
},
{
"name": "diazepam",
"id": "PA449283"
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{
"name": "doxepin",
"id": "PA449409"
},
{
"name": "escitalopram",
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{
"name": "esomeprazole",
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{
"name": "flibanserin",
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{
"name": "fosphenytoin",
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{
"name": "imipramine",
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{
"name": "lansoprazole",
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{
"name": "mavacamten",
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{
"name": "omeprazole",
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{
"name": "pantoprazole",
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{
"name": "phenytoin",
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{
"name": "rabeprazole",
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{
"name": "sertraline",
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{
"name": "trimipramine",
"id": "PA451791"
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{
"name": "voriconazole",
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],
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{
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"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
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"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
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"Normal Metabolizer"
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],
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{
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}
],
"variants": [],
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},
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{
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},
{
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}
],
"relatedDrugs": [
{
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{
"name": "celecoxib",
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{
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{
"name": "erdafitinib",
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{
"name": "flurbiprofen",
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{
"name": "fluvastatin",
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},
{
"name": "fosphenytoin",
"id": "PA164746820"
},
{
"name": "ibuprofen",
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},
{
"name": "lesinurad",
"id": "PA166160006"
},
{
"name": "lornoxicam",
"id": "PA165958395"
},
{
"name": "meloxicam",
"id": "PA450353"
},
{
"name": "nateglinide",
"id": "PA450600"
},
{
"name": "phenytoin",
"id": "PA450947"
},
{
"name": "piroxicam",
"id": "PA450985"
},
{
"name": "siponimod",
"id": "PA166182736"
},
{
"name": "tenoxicam",
"id": "PA131890625"
},
{
"name": "warfarin",
"id": "PA451906"
}
],
"sourceDiplotypes": [
{
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],
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{
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],
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},
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{
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},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [
{
"name": "acetaminophen / caffeine / dihydrocodeine",
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},
{
"name": "amitriptyline",
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},
{
"name": "amoxapine",
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},
{
"name": "amphetamine",
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{
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{
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{
"name": "atomoxetine",
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{
"name": "brexpiprazole",
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{
"name": "carvedilol",
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{
"name": "cevimeline",
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{
"name": "clomipramine",
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{
"name": "clozapine",
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{
"name": "codeine",
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{
"name": "darifenacin",
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{
"name": "desipramine",
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{
"name": "deutetrabenazine",
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{
"name": "dextromethorphan / quinidine",
"id": "PA166175998"
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{
"name": "dextromethorphan hydrobromide / bupropion hydrochloride",
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{
"name": "donepezil",
"id": "PA449394"
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{
"name": "doxepin",
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{
"name": "eliglustat",
"id": "PA166123486"
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{
"name": "fesoterodine",
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{
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{
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{
"name": "galantamine",
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{
"name": "gefitinib",
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
"name": "tamsulosin",
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{
"name": "tetrabenazine",
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{
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{
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{
"name": "tramadol",
"id": "PA451735"
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{
"name": "trimipramine",
"id": "PA451791"
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{
"name": "tropisetron",
"id": "PA161925594"
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{
"name": "valbenazine",
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{
"name": "venlafaxine",
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{
"name": "viloxazine",
"id": "PA166251581"
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{
"name": "vortioxetine",
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],
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
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{
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],
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{
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}
],
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},
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"message": "PharmCAT would have called *3/*3 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
"name": "tacrolimus",
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}
],
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{
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},
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},
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],
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{
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},
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},
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],
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}
],
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},
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"message": "PharmCAT would have called *4/*5 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
"name": "warfarin",
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}
],
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{
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},
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},
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}
],
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{
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},
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},
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}
],
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},
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{
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},
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"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
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"message": "PharmCAT would have called Reference/Reference based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
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{
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},
{
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],
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{
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},
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},
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],
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],
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{
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},
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},
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}
],
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},
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{
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},
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},
{
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}
],
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{
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{
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{
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{
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{
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{
"name": "chlorpropamide",
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{
"name": "dabrafenib",
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},
{
"name": "dapsone",
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{
"name": "flutamide",
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},
{
"name": "glimepiride",
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},
{
"name": "glipizide",
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},
{
"name": "glyburide",
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},
{
"name": "hydroxychloroquine",
"id": "PA164777036"
},
{
"name": "lidocaine / prilocaine",
"id": "PA166176018"
},
{
"name": "lidocaine and tetracaine",
"id": "PA166182735"
},
{
"name": "mepivacaine",
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},
{
"name": "methylene blue",
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},
{
"name": "moviprep",
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},
{
"name": "nalidixic acid",
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},
{
"name": "nitrofurantoin",
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},
{
"name": "oxymetazoline and tetracaine",
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},
{
"name": "pegloticase",
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},
{
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},
{
"name": "rasburicase",
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},
{
"name": "sodium ascorbate",
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},
{
"name": "sodium nitrite",
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{
"name": "sulfasalazine",
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{
"name": "tafenoquine",
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{
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},
{
"name": "tolbutamide",
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},
{
"name": "toluidine blue",
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],
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{
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],
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{
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},
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}
],
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},
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"variant": null,
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},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [
{
"name": "carbamazepine",
"id": "PA448785"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "HLA-A",
"name": "*01:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-A",
"name": "*26:01",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-A",
"phenotypes": [
"*31:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*31:01 negative"
],
"label": "*01:01/*26:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "HLA-A",
"name": "*01:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-A",
"name": "*26:01",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-A",
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"*31:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*31:01 negative"
],
"label": "*01:01/*26:01",
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"combination": false,
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}
],
"variants": [],
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"treatUndocumentedVariationsAsReference": false
},
"HLA-B": {
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"phenotypeSource": "CPIC",
"geneSymbol": "HLA-B",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [
{
"name": "abacavir",
"id": "PA448004"
},
{
"name": "allopurinol",
"id": "PA448320"
},
{
"name": "carbamazepine",
"id": "PA448785"
},
{
"name": "fosphenytoin",
"id": "PA164746820"
},
{
"name": "oxcarbazepine",
"id": "PA450732"
},
{
"name": "pazopanib",
"id": "PA165291492"
},
{
"name": "phenytoin",
"id": "PA450947"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"IFNL3": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "IFNL3",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
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"version": "1",
"matches": {
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"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called rs12979860 reference (C)/rs12979860 reference (C) based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
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},
{
"name": "peginterferon alfa-2b",
"id": "PA164784024"
},
{
"name": "ribavirin",
"id": "PA451241"
}
],
"sourceDiplotypes": [
{
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"name": "rs12979860 reference (C)",
"function": "Favorable response allele",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "IFNL3",
"name": "rs12979860 reference (C)",
"function": "Favorable response allele",
"reference": true,
"activityValue": "n/a"
},
"gene": "IFNL3",
"phenotypes": [
"n/a"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"n/a"
],
"label": "rs12979860 reference (C)/rs12979860 reference (C)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "IFNL3",
"name": "rs12979860 reference (C)",
"function": "Favorable response allele",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "IFNL3",
"name": "rs12979860 reference (C)",
"function": "Favorable response allele",
"reference": true,
"activityValue": "n/a"
},
"gene": "IFNL3",
"phenotypes": [
"n/a"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"n/a"
],
"label": "rs12979860 reference (C)/rs12979860 reference (C)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"MT-RNR1": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "MT-RNR1",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [
{
"name": "amikacin",
"id": "PA164744372"
},
{
"name": "dibekacin",
"id": "PA166292901"
},
{
"name": "gentamicin",
"id": "PA449753"
},
{
"name": "kanamycin",
"id": "PA450137"
},
{
"name": "neomycin",
"id": "PA450608"
},
{
"name": "netilmicin",
"id": "PA164754913"
},
{
"name": "paromomycin",
"id": "PA164784023"
},
{
"name": "plazomicin",
"id": "PA166228921"
},
{
"name": "ribostamycin",
"id": "PA166292902"
},
{
"name": "streptomycin",
"id": "PA451512"
},
{
"name": "tobramycin",
"id": "PA451704"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"normal risk of aminoglycoside-induced hearing loss"
],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"normal risk of aminoglycoside-induced hearing loss"
],
"label": "Reference",
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"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"NUDT15": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "NUDT15",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
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"hapsCalled": [],
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"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "azathioprine",
"id": "PA448515"
},
{
"name": "mercaptopurine",
"id": "PA450379"
},
{
"name": "thioguanine",
"id": "PA451663"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "NUDT15",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "NUDT15",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "NUDT15",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "NUDT15",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "NUDT15",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "NUDT15",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
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"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"RYR1": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "RYR1",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called Reference/Reference based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "desflurane",
"id": "PA164749136"
},
{
"name": "enflurane",
"id": "PA449461"
},
{
"name": "halothane",
"id": "PA449845"
},
{
"name": "isoflurane",
"id": "PA450106"
},
{
"name": "methoxyflurane",
"id": "PA450434"
},
{
"name": "sevoflurane",
"id": "PA451341"
},
{
"name": "succinylcholine",
"id": "PA451522"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "RYR1",
"phenotypes": [
"Uncertain Susceptibility"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Uncertain Susceptibility"
],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "RYR1",
"phenotypes": [
"Uncertain Susceptibility"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Uncertain Susceptibility"
],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {
"Reference": 2.0
}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"SLCO1B1": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "SLCO1B1",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "atorvastatin",
"id": "PA448500"
},
{
"name": "elagolix",
"id": "PA166182348"
},
{
"name": "fluvastatin",
"id": "PA449688"
},
{
"name": "lovastatin",
"id": "PA450272"
},
{
"name": "pitavastatin",
"id": "PA142650384"
},
{
"name": "pravastatin",
"id": "PA451089"
},
{
"name": "rosuvastatin",
"id": "PA134308647"
},
{
"name": "simvastatin",
"id": "PA451363"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "SLCO1B1",
"phenotypes": [
"Normal Function"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "SLCO1B1",
"phenotypes": [
"Normal Function"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"TPMT": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "TPMT",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "azathioprine",
"id": "PA448515"
},
{
"name": "mercaptopurine",
"id": "PA450379"
},
{
"name": "thioguanine",
"id": "PA451663"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "TPMT",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "TPMT",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"UGT1A1": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "CPIC",
"geneSymbol": "UGT1A1",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "atazanavir",
"id": "PA10251"
},
{
"name": "belinostat",
"id": "PA165971474"
},
{
"name": "dolutegravir",
"id": "PA166114961"
},
{
"name": "irinotecan",
"id": "PA450085"
},
{
"name": "nilotinib",
"id": "PA165958345"
},
{
"name": "pazopanib",
"id": "PA165291492"
},
{
"name": "raltegravir",
"id": "PA164888966"
},
{
"name": "sacituzumab govitecan",
"id": "PA166225061"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "UGT1A1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "UGT1A1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "UGT1A1",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "UGT1A1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "UGT1A1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "UGT1A1",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"VKORC1": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": null,
"phenotypeSource": "CPIC",
"geneSymbol": "VKORC1",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called rs9923231 variant (T)/rs9923231 variant (T) based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "warfarin",
"id": "PA451906"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "VKORC1",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "VKORC1",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
}
},
"DPWG": {
"ABCG2": {
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"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "ABCG2",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called rs2231142 reference (G)/rs2231142 reference (G) based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "allopurinol",
"id": "PA448320"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "ABCG2",
"name": "rs2231142 reference (G)",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "ABCG2",
"name": "rs2231142 reference (G)",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "ABCG2",
"phenotypes": [
"Normal Function"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "rs2231142 reference (G)/rs2231142 reference (G)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "ABCG2",
"name": "rs2231142 reference (G)",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "ABCG2",
"name": "rs2231142 reference (G)",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "ABCG2",
"phenotypes": [
"Normal Function"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "rs2231142 reference (G)/rs2231142 reference (G)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CACNA1S": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": null,
"phenotypeSource": "DPWG",
"geneSymbol": "CACNA1S",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CACNA1S",
"name": "Reference",
"function": null,
"reference": true,
"activityValue": null
},
"allele2": {
"gene": "CACNA1S",
"name": "Reference",
"function": null,
"reference": true,
"activityValue": null
},
"gene": "CACNA1S",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CACNA1S",
"name": "Reference",
"function": null,
"reference": true,
"activityValue": null
},
"allele2": {
"gene": "CACNA1S",
"name": "Reference",
"function": null,
"reference": true,
"activityValue": null
},
"gene": "CACNA1S",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CFTR": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": null,
"phenotypeSource": "DPWG",
"geneSymbol": "CFTR",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
"function": null,
"reference": true,
"activityValue": null
},
"allele2": {
"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
"function": null,
"reference": true,
"activityValue": null
},
"gene": "CFTR",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
"function": null,
"reference": true,
"activityValue": null
},
"allele2": {
"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
"function": null,
"reference": true,
"activityValue": null
},
"gene": "CFTR",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP2B6": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "CYP2B6",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *2/*5 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "efavirenz",
"id": "PA449441"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP2B6",
"name": "*5",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2B6",
"name": "*2",
"function": "Unassigned function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2B6",
"phenotypes": [
"n/a"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"n/a"
],
"label": "*2/*5",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP2B6",
"name": "*5",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2B6",
"name": "*2",
"function": "Unassigned function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2B6",
"phenotypes": [
"n/a"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"n/a"
],
"label": "*2/*5",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP2C19": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "CYP2C19",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "citalopram",
"id": "PA449015"
},
{
"name": "clomipramine",
"id": "PA449048"
},
{
"name": "clopidogrel",
"id": "PA449053"
},
{
"name": "escitalopram",
"id": "PA10074"
},
{
"name": "imipramine",
"id": "PA449969"
},
{
"name": "lansoprazole",
"id": "PA450180"
},
{
"name": "omeprazole",
"id": "PA450704"
},
{
"name": "pantoprazole",
"id": "PA450774"
},
{
"name": "sertraline",
"id": "PA451333"
},
{
"name": "voriconazole",
"id": "PA10233"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP2C9": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "CYP2C9",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "phenytoin",
"id": "PA450947"
},
{
"name": "siponimod",
"id": "PA166182736"
},
{
"name": "warfarin",
"id": "PA451906"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP2D6": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "CYP2D6",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [
{
"name": "amitriptyline",
"id": "PA448385"
},
{
"name": "aripiprazole",
"id": "PA10026"
},
{
"name": "atomoxetine",
"id": "PA134688071"
},
{
"name": "brexpiprazole",
"id": "PA166160053"
},
{
"name": "clomipramine",
"id": "PA449048"
},
{
"name": "codeine",
"id": "PA449088"
},
{
"name": "doxepin",
"id": "PA449409"
},
{
"name": "eliglustat",
"id": "PA166123486"
},
{
"name": "flecainide",
"id": "PA449646"
},
{
"name": "haloperidol",
"id": "PA449841"
},
{
"name": "imipramine",
"id": "PA449969"
},
{
"name": "metoprolol",
"id": "PA450480"
},
{
"name": "nortriptyline",
"id": "PA450657"
},
{
"name": "paroxetine",
"id": "PA450801"
},
{
"name": "pimozide",
"id": "PA450965"
},
{
"name": "propafenone",
"id": "PA451131"
},
{
"name": "risperidone",
"id": "PA451257"
},
{
"name": "tamoxifen",
"id": "PA451581"
},
{
"name": "tramadol",
"id": "PA451735"
},
{
"name": "venlafaxine",
"id": "PA451866"
},
{
"name": "zuclopenthixol",
"id": "PA452629"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP3A4": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "CYP3A4",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *1/*1 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "quetiapine",
"id": "PA451201"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP3A4",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP3A4",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CYP3A4",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP3A4",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP3A4",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CYP3A4",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP3A5": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "CYP3A5",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called *3/*3 based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "tacrolimus",
"id": "PA451578"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP3A5",
"name": "*3",
"function": "No function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP3A5",
"name": "*3",
"function": "No function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP3A5",
"phenotypes": [
"Poor Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Poor Metabolizer"
],
"label": "*3/*3",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP3A5",
"name": "*3",
"function": "No function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP3A5",
"name": "*3",
"function": "No function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP3A5",
"phenotypes": [
"Poor Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Poor Metabolizer"
],
"label": "*3/*3",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"CYP4F2": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": null,
"phenotypeSource": "DPWG",
"geneSymbol": "CYP4F2",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [],
"sourceDiplotypes": [
{
"allele1": {
"gene": "CYP4F2",
"name": "*4",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "CYP4F2",
"name": "*5",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "CYP4F2",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "*4/*5",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "CYP4F2",
"name": "*4",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "CYP4F2",
"name": "*5",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "CYP4F2",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "*4/*5",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"DPYD": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": "2024-08-27-21-12",
"phenotypeSource": "DPWG",
"geneSymbol": "DPYD",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called Reference/Reference based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "capecitabine",
"id": "PA448771"
},
{
"name": "flucytosine",
"id": "PA449654"
},
{
"name": "fluorouracil",
"id": "PA128406956"
},
{
"name": "tegafur",
"id": "PA452620"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "DPYD",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "DPYD",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "DPYD",
"phenotypes": [
"2.0 (Normal Metabolizer)"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "DPYD",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "DPYD",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "DPYD",
"phenotypes": [
"2.0 (Normal Metabolizer)"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0 (Normal Metabolizer)"
],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {
"Reference": 2.0
}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"G6PD": {
"alleleDefinitionVersion": null,
"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": null,
"phenotypeSource": "DPWG",
"geneSymbol": "G6PD",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [],
"sourceDiplotypes": [
{
"allele1": {
"gene": "G6PD",
"name": "B (reference)",
"function": null,
"reference": true,
"activityValue": null
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": null,
"reference": true,
"activityValue": null
},
"gene": "G6PD",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "G6PD",
"name": "B (reference)",
"function": null,
"reference": true,
"activityValue": null
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": null,
"reference": true,
"activityValue": null
},
"gene": "G6PD",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
},
"HLA-A": {
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"alleleDefinitionSource": "UNKNOWN",
"phenotypeVersion": null,
"phenotypeSource": "DPWG",
"geneSymbol": "HLA-A",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
}
],
"relatedDrugs": [
{
"name": "carbamazepine",
"id": "PA448785"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "HLA-A",
"name": "*01:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-A",
"name": "*26:01",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-A",
"phenotypes": [
"*31:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*31:01 negative"
],
"label": "*01:01/*26:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "HLA-A",
"name": "*01:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-A",
"name": "*26:01",
"function": null,
"reference": false,
"activityValue": null
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],
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"geneSymbol": "VKORC1",
"chr": null,
"phased": false,
"effectivelyPhased": false,
"callSource": "OUTSIDE",
"uncalledHaplotypes": [],
"messages": [
{
"rule_name": "pcat-outside-call",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": []
},
"exception_type": "",
"message": "This comes from an outside data source which does not supply position-level detail. For specific disclaimers and limitations, see the original genotyping source."
},
{
"rule_name": "prefer-sample-data",
"version": null,
"matches": null,
"exception_type": "note",
"message": "PharmCAT would have called rs9923231 variant (T)/rs9923231 variant (T) based on the VCF but it has been ignored in favor of the outside call. If you want to use the PharmCAT call for this gene then remove the gene from the outside call data."
}
],
"relatedDrugs": [
{
"name": "acenocoumarol",
"id": "PA452632"
},
{
"name": "phenprocoumon",
"id": "PA450921"
},
{
"name": "warfarin",
"id": "PA451906"
}
],
"sourceDiplotypes": [
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"gene": "VKORC1",
"phenotypes": [
"-1639 AA"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"-1639 AA"
],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"matcherComponentHaplotypes": [],
"matcherHomozygousComponentHaplotypes": [],
"recommendationDiplotypes": [
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"gene": "VKORC1",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
],
"variants": [],
"variantsOfInterest": [],
"hasUndocumentedVariations": false,
"treatUndocumentedVariationsAsReference": false
}
}
},
"drugs": {
"CPIC Guideline Annotation": {
"abacavir": {
"name": "abacavir",
"id": "PA448004",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104997"
],
"citations": [
{
"pmid": "22378157",
"title": "Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2012,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374459"
},
{
"pmid": "24561393",
"title": "Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994233"
}
],
"guidelines": [
{
"id": "PA166104997",
"name": "Annotation of CPIC Guideline for abacavir and HLA-B",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104997",
"annotations": [
{
"implications": [
"HLA-B: Low or reduced risk of abacavir hypersensitivity"
],
"drugRecommendation": "Use abacavir per standard dosing guidelines",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"HLA-B": "*57:01 negative"
},
"lookupKey": {
"HLA-B": "*57:01 negative"
}
}
]
}
]
},
"allopurinol": {
"name": "allopurinol",
"id": "PA448320",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166105003"
],
"citations": [
{
"pmid": "23232549",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564416"
},
{
"pmid": "26094938",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2016,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4675696"
}
],
"guidelines": [
{
"id": "PA166105003",
"name": "Annotation of CPIC Guideline for allopurinol and HLA-B",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105003",
"annotations": [
{
"implications": [
"HLA-B: Low or reduced risk of allopurinol-induced SCAR"
],
"drugRecommendation": "Use allopurinol per standard dosing guidelines",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"HLA-B": "*58:01 negative"
},
"lookupKey": {
"HLA-B": "*58:01 negative"
}
}
]
}
]
},
"amikacin": {
"name": "amikacin",
"id": "PA164744372",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
"MT-RNR1: Normal risk of developing hearing loss if administered an aminoglycoside antibiotic."
],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"normal risk of aminoglycoside-induced hearing loss"
],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
},
"lookupKey": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
}
}
]
}
]
},
"amitriptyline": {
"name": "amitriptyline",
"id": "PA448385",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166105006"
],
"citations": [
{
"pmid": "23486447",
"title": "Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689226"
},
{
"pmid": "27997040",
"title": "Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478479"
}
],
"guidelines": [
{
"id": "PA166105006",
"name": "Annotation of CPIC Guideline for amitriptyline and CYP2C19, CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105006",
"annotations": [
{
"implications": [
"CYP2C19: Normal metabolism of tertiary amines",
"CYP2D6: Reduced metabolism of TCAs to less active compounds compared to normal metabolizers; Higher plasma concentrations of active drug will increase the probability of side effects"
],
"drugRecommendation": "Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments.\nOther Considerations
\nPatients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain.",
"classification": "Moderate",
"activityScore": {
"CYP2C19": "n/a",
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer",
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer",
"CYP2D6": "1.0"
}
}
]
}
]
},
"atazanavir": {
"name": "atazanavir",
"id": "PA10251",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166128738"
],
"citations": [
{
"pmid": "26417955",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2016,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785051"
}
],
"guidelines": [
{
"id": "PA166128738",
"name": "Annotation of CPIC Guideline for atazanavir and UGT1A1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166128738",
"annotations": [
{
"implications": [
"UGT1A1: Reference UGT1A1 activity; very low likelihood of bilirubin-related discontinuation of atazanavir."
],
"drugRecommendation": "There is no need to avoid prescribing of atazanavir based on UGT1A1 genetic test result. Inform the patient that some patients stop atazanavir because of jaundice (yellow eyes and skin), but that this patient’s genotype makes this unlikely (less than about a 1 in 20 chance of stopping atazanavir because of jaundice).\nOther Considerations
\nAll studies correlating UGT1A1 genotypes with atazanavir adverse events have involved ritonavir boosting. However, concentration-time profiles are equivalent when boosted with either cobicistat or ritonavir (PMID 23532097), and bilirubin-related adverse events including discontinuation of atazanavir occur in a similar percentage of patients prescribed atazanavir with cobicistat or ritonavir (PMID 23532097). Associations between UGT1A1 genotype, bilirubin elevations, and atazanavir/r discontinuation therefore almost certainly translate to atazanavir/cobicistat. "reference" function refers to the UGT1A1 allele to which other alleles are compared.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "UGT1A1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "UGT1A1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "UGT1A1",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"UGT1A1": "Normal Metabolizer"
},
"lookupKey": {
"UGT1A1": "Normal Metabolizer"
}
}
]
}
]
},
"atomoxetine": {
"name": "atomoxetine",
"id": "PA134688071",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166181885"
],
"citations": [
{
"pmid": "30801677",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for Cytochrome P450 (CYP)2D6 Genotype and Atomoxetine Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612570"
}
],
"guidelines": [
{
"id": "PA166181885",
"name": "Annotation of CPIC Guideline for atomoxetine and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166181885",
"annotations": [
{
"implications": [
"CYP2D6: Possibly higher atomoxetine concentrations as compared to normal metabolizers but questionable clinical significance. Intermediate metabolizers with an activity score of 1 may be at an increased risk of discontinuation as compared to poor metabolizers."
],
"drugRecommendation": "Initiate with a dose of 40 mg/day and increase to 80 mg/day after 3 days. If no clinical response and in the absence of adverse events after 2 weeks, consider increasing dose to 100 mg/day. If no clinical response observed after 2 weeks, consider obtaining a peak plasma concentration (1 to 2 hours after dose administered). If <200 ng/mL, consider a proportional increase in dose to approach 400 ng/mL. Dosages greater than 100 mg/day may be needed to achieve target concentrations.\nOther Considerations
\nTherapeutic range of 200 to 1000 ng/mL has been proposed (PMID 29493375). Limited data are available regarding the relationship between atomoxetine plasma concentrations and clinical response. Available information suggests that clinical response is greater in poor metabolizers (PMs) compared to non-PMs and may be related to the higher plasma concentrations 1 to 1.5 hours after dosing in PMs compared to non-PMs administered a similar dose. Furthermore, modest improvement in response, defined as reduction in ADHD-rating scale, is observed at peak concentrations greater than 400 ng/mL. Doses above 120 mg/day have not been evaluated.",
"classification": "Moderate",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "adults",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
},
{
"implications": [
"CYP2D6: Possibly higher atomoxetine concentrations as compared to normal metabolizers but questionable clinical significance. Intermediate metabolizers with an activity score of 1 may be at an increased risk of discontinuation as compared to poor metabolizers."
],
"drugRecommendation": "Initiate with a dose of 0.5 mg/kg/day and increase to 1.2 mg/kg/day after 3 days. If no clinical response and in the absence of adverse events after 2 weeks, consider obtaining a peak plasma concentration (1 to 2 hours after dose administered). If < 200 ng/mL, consider a proportional increase in dose to approach 400 ng/mL.\nOther Considerations
\nTherapeutic range of 200 to 1000 ng/mL has been proposed (PMID 29493375). Limited data are available regarding the relationship between atomoxetine plasma concentrations and clinical response. Available information suggests that clinical response is greater in poor metabolizers (PMs) compared to non-PMs and may be related to the higher plasma concentrations 1 to 1.5 hours after dosing in PMs compared to non-PMs administered a similar dose. Furthermore, modest improvement in response, defined as reduction in ADHD-rating scale, is observed at peak concentrations greater than 400 ng/mL.",
"classification": "Moderate",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "pediatrics",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
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}
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}
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},
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"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
{
"pmid": "35152405",
"title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.",
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"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035072"
}
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"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262221",
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"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"reference": true,
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}
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"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
{
"pmid": "21270794",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098761"
},
{
"pmid": "23422873",
"title": "Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604643"
},
{
"pmid": "30447069",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.",
"journal": "Clinical pharmacology and therapeutics",
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"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104933",
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"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"id": "PA448771",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
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"pmid": "23988873",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831181"
},
{
"pmid": "29152729",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update.",
"journal": "Clinical pharmacology and therapeutics",
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"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760397"
}
],
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"id": "PA166109594",
"name": "Annotation of CPIC Guideline for capecitabine and DPYD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166109594",
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"classification": "Strong",
"activityScore": {
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"population": "general",
"genotypes": [
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}
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}
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}
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}
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"version": "2024-08-27-21-12",
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"variants": [],
"urls": [
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"citations": [
{
"pmid": "23695185",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for HLA-B genotype and carbamazepine dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748365"
},
{
"pmid": "29392710",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.",
"journal": "Clinical pharmacology and therapeutics",
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"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847474"
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"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105008",
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"classification": "Strong",
"activityScore": {},
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"genotypes": [
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"function": null,
"reference": false,
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"function": null,
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"variant": null,
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"label": "*01:01/*26:01",
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},
{
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"activityValue": null
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},
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},
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}
]
},
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"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "32189324",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2020,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080882"
}
],
"guidelines": [
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"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841",
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"activityScore": {
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}
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}
]
}
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},
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"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
{
"pmid": "25974703",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2015,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512908"
},
{
"pmid": "37032427",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2023,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/37032427"
}
],
"guidelines": [
{
"id": "PA166127638",
"name": "Annotation of CPIC Guideline for citalopram, escitalopram and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127638",
"annotations": [
{
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],
"drugRecommendation": "Initiate therapy with recommended starting dose",
"classification": "Strong",
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"genotypes": [
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"dexlansoprazole": {
"name": "dexlansoprazole",
"id": "PA166110257",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166219301"
],
"citations": [
{
"pmid": "32770672",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868475"
}
],
"guidelines": [
{
"id": "PA166219301",
"name": "Annotation of CPIC Guideline for dexlansoprazole and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219301",
"annotations": [
{
"implications": [
"CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs"
],
"drugRecommendation": "Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses.\nMonitor for efficacy.",
"classification": "Optional",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"dibekacin": {
"name": "dibekacin",
"id": "PA166292901",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
"MT-RNR1: Normal risk of developing hearing loss if administered an aminoglycoside antibiotic."
],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
},
"lookupKey": {
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}
}
]
}
]
},
"doxepin": {
"name": "doxepin",
"id": "PA449409",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166105000"
],
"citations": [
{
"pmid": "23486447",
"title": "Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689226"
},
{
"pmid": "27997040",
"title": "Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478479"
}
],
"guidelines": [
{
"id": "PA166105000",
"name": "Annotation of CPIC Guideline for doxepin and CYP2C19, CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105000",
"annotations": [
{
"implications": [
"CYP2C19: Normal metabolism of tertiary amines",
"CYP2D6: Reduced metabolism of TCAs to less active compounds compared to normal metabolizers; Higher plasma concentrations of active drug will increase the probability of side effects"
],
"drugRecommendation": "Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments.\nOther Considerations
\nPatients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain.",
"classification": "Optional",
"activityScore": {
"CYP2C19": "n/a",
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer",
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer",
"CYP2D6": "1.0"
}
}
]
}
]
},
"efavirenz": {
"name": "efavirenz",
"id": "PA449441",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166182603"
],
"citations": [
{
"pmid": "31006110",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2B6 and Efavirenz-Containing Antiretroviral Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739160"
}
],
"guidelines": [
{
"id": "PA166182603",
"name": "Annotation of CPIC Guideline for efavirenz and CYP2B6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182603",
"annotations": [
{
"implications": [
"CYP2B6: Normal efavirenz metabolism"
],
"drugRecommendation": "Initiate efavirenz with standard dosing (600 mg/day)\nOther Considerations
\nThe ENCORE study showed that in treatment-naïve patients randomized to initiate efavirenz-based regimens (combined with tenofovir and emtricitabine), 400 mg/day was non-inferior to 600 mg/day regardless of CYP2B6 genotype (PMID 24522178).",
"classification": "Strong",
"activityScore": {},
"population": "child >40kg_adult",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2B6",
"name": "*5",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2B6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2B6",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*2/*5",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2B6": "Normal Metabolizer"
},
"lookupKey": {
"CYP2B6": "Normal Metabolizer"
}
}
]
}
]
},
"enflurane": {
"name": "enflurane",
"id": "PA449461",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166303941"
],
"citations": [
{
"pmid": "30499100",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513720"
}
],
"guidelines": [
{
"id": "PA166303941",
"name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941",
"annotations": [
{
"implications": [
"These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)."
],
"drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CACNA1S",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CACNA1S",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CACNA1S",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "RYR1",
"phenotypes": [
"Uncertain Susceptibility"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {
"Reference": 2.0
}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"CACNA1S": "Uncertain Susceptibility",
"RYR1": "Uncertain Susceptibility"
},
"lookupKey": {
"CACNA1S": "Uncertain Susceptibility",
"RYR1": "Uncertain Susceptibility"
}
}
]
}
]
},
"escitalopram": {
"name": "escitalopram",
"id": "PA10074",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166127638"
],
"citations": [
{
"pmid": "25974703",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2015,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512908"
},
{
"pmid": "37032427",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2023,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/37032427"
}
],
"guidelines": [
{
"id": "PA166127638",
"name": "Annotation of CPIC Guideline for citalopram, escitalopram and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127638",
"annotations": [
{
"implications": [
"CYP2C19: Normal metabolism"
],
"drugRecommendation": "Initiate therapy with recommended starting dose",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"fluorouracil": {
"name": "fluorouracil",
"id": "PA128406956",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166122686"
],
"citations": [
{
"pmid": "23988873",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831181"
},
{
"pmid": "29152729",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2018,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760397"
}
],
"guidelines": [
{
"id": "PA166122686",
"name": "Annotation of CPIC Guideline for fluorouracil and DPYD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122686",
"annotations": [
{
"implications": [
"DPYD: Normal DPD activity and \"normal\" risk for fluoropyrimidine toxicity"
],
"drugRecommendation": "Based on genotype, there is no indication to change dose or therapy. Use label-recommended dosage and administration.",
"classification": "Strong",
"activityScore": {
"DPYD": "2.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "DPYD",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "DPYD",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "DPYD",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {
"Reference": 2.0
}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
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}
}
]
}
]
},
"flurbiprofen": {
"name": "flurbiprofen",
"id": "PA449683",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "32189324",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2020,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080882"
}
],
"guidelines": [
{
"id": "PA166191841",
"name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841",
"annotations": [
{
"implications": [
"CYP2C9: Normal metabolism"
],
"drugRecommendation": "Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*1/*1",
"inferred": false,
"combination": false,
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"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
"CYP2C9": "2.0"
}
}
]
}
]
},
"fluvastatin": {
"name": "fluvastatin",
"id": "PA449688",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "35152405",
"title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035072"
}
],
"guidelines": [
{
"id": "PA166262341",
"name": "Annotation of CPIC Guideline for fluvastatin and CYP2C9, SLCO1B1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262341",
"annotations": [
{
"implications": [
"CYP2C9: Normal exposure.",
"SLCO1B1: Typical myopathy risk and statin exposure."
],
"drugRecommendation": "Prescribe desired starting dose and adjust doses of fluvastatin based on disease-specific guidelines.\nOther Considerations
\nThe potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0",
"SLCO1B1": "n/a"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "SLCO1B1",
"phenotypes": [
"Normal Function"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C9": "Normal Metabolizer",
"SLCO1B1": "Normal Function"
},
"lookupKey": {
"CYP2C9": "2.0",
"SLCO1B1": "Normal Function"
}
}
]
}
]
},
"fluvoxamine": {
"name": "fluvoxamine",
"id": "PA449690",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166127637"
],
"citations": [
{
"pmid": "25974703",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2015,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512908"
},
{
"pmid": "37032427",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2023,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/37032427"
}
],
"guidelines": [
{
"id": "PA166127637",
"name": "Annotation of CPIC Guideline for fluvoxamine and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127637",
"annotations": [
{
"implications": [
"CYP2D6: Reduced metabolism of fluvoxamine to less active compounds when compared to CYP2D6 normal metabolizers. Higher plasma concentrations may increase the probability of side effects."
],
"drugRecommendation": "Initiate therapy with recommended starting dose.",
"classification": "Moderate",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"fosphenytoin": {
"name": "fosphenytoin",
"id": "PA164746820",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [
{
"rule_name": "Phenytoin_HLA-B warning",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": [
"phenytoin",
"fosphenytoin"
]
},
"exception_type": "note",
"message": "The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele (\"HLA-B*15:02-positive\") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin."
}
],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166122806"
],
"citations": [
{
"pmid": "25099164",
"title": "Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206662"
},
{
"pmid": "32779747",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831382"
}
],
"guidelines": [
{
"id": "PA166122806",
"name": "Annotation of CPIC Guideline for fosphenytoin, phenytoin and CYP2C9, HLA-B",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166122806",
"annotations": [
{
"implications": [
"CYP2C9: Normal phenytoin metabolism",
"HLA-B: n/a"
],
"drugRecommendation": "No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0",
"HLA-B": "n/a"
},
"population": "PHT naive",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C9": "Normal Metabolizer",
"HLA-B": "*15:02 negative"
},
"lookupKey": {
"CYP2C9": "2.0",
"HLA-B": "*15:02 negative"
}
},
{
"implications": [
"CYP2C9: Normal phenytoin metabolism",
"HLA-B: n/a"
],
"drugRecommendation": "No adjustments needed from typical dosing strategies. Subsequent doses should be adjusted according to therapeutic drug monitoring, response, and side effects. An HLA-B*15:02 negative test does not eliminate the risk of phenytoin-induced SJS/TEN and patients should be carefully monitored according to a usual standard.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0",
"HLA-B": "n/a"
},
"population": "PHT use >3mos",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C9": "Normal Metabolizer",
"HLA-B": "*15:02 negative"
},
"lookupKey": {
"CYP2C9": "2.0",
"HLA-B": "*15:02 negative"
}
}
]
}
]
},
"gentamicin": {
"name": "gentamicin",
"id": "PA449753",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
"MT-RNR1: Normal risk of developing hearing loss if administered an aminoglycoside antibiotic."
],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"normal risk of aminoglycoside-induced hearing loss"
],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
},
"lookupKey": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
}
}
]
}
]
},
"halothane": {
"name": "halothane",
"id": "PA449845",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166303941"
],
"citations": [
{
"pmid": "30499100",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513720"
}
],
"guidelines": [
{
"id": "PA166303941",
"name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941",
"annotations": [
{
"implications": [
"These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)."
],
"drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CACNA1S",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CACNA1S",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CACNA1S",
"phenotypes": [
"Uncertain Susceptibility"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Uncertain Susceptibility"
],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "RYR1",
"phenotypes": [
"Uncertain Susceptibility"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Uncertain Susceptibility"
],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {
"Reference": 2.0
}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"CACNA1S": "Uncertain Susceptibility",
"RYR1": "Uncertain Susceptibility"
},
"lookupKey": {
"CACNA1S": "Uncertain Susceptibility",
"RYR1": "Uncertain Susceptibility"
}
}
]
}
]
},
"hydrocodone": {
"name": "hydrocodone",
"id": "PA449900",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166228121"
],
"citations": [
{
"pmid": "33387367",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8249478"
}
],
"guidelines": [
{
"id": "PA166228121",
"name": "Annotation of CPIC Guideline for hydrocodone and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166228121",
"annotations": [
{
"implications": [
"CYP2D6: Minimal evidence for pharmacokinetic or clinical effect."
],
"drugRecommendation": "Use hydrocodone label recommended age- or weight-specific dosing. If no response and opioid use is warranted, consider non-codeine or non-tramadol opioid.",
"classification": "Optional",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"ibuprofen": {
"name": "ibuprofen",
"id": "PA449957",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166191841"
],
"citations": [
{
"pmid": "32189324",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2020,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080882"
}
],
"guidelines": [
{
"id": "PA166191841",
"name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841",
"annotations": [
{
"implications": [
"CYP2C9: Normal metabolism"
],
"drugRecommendation": "Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C9": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C9": "2.0"
}
}
]
}
]
},
"imipramine": {
"name": "imipramine",
"id": "PA449969",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
{
"pmid": "23486447",
"title": "Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689226"
},
{
"pmid": "27997040",
"title": "Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478479"
}
],
"guidelines": [
{
"id": "PA166104999",
"name": "Annotation of CPIC Guideline for imipramine and CYP2C19, CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104999",
"annotations": [
{
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],
"drugRecommendation": "Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments.\nOther Considerations
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"classification": "Optional",
"activityScore": {
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"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
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"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
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"function": "Normal function",
"reference": false,
"activityValue": "n/a"
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"gene": "CYP2C19",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
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"activityValue": "1.0"
},
"allele2": {
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"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
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}
}
]
}
]
},
"isoflurane": {
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"id": "PA450106",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "30499100",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513720"
}
],
"guidelines": [
{
"id": "PA166303941",
"name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941",
"annotations": [
{
"implications": [
"These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)."
],
"drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CACNA1S",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CACNA1S",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CACNA1S",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "RYR1",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {
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}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"CACNA1S": "Uncertain Susceptibility",
"RYR1": "Uncertain Susceptibility"
},
"lookupKey": {
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"RYR1": "Uncertain Susceptibility"
}
}
]
}
]
},
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"id": "PA165950341",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "24598717",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026598"
}
],
"guidelines": [
{
"id": "PA166114461",
"name": "Annotation of CPIC Guideline for ivacaftor and CFTR",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166114461",
"annotations": [
{
"implications": [
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],
"drugRecommendation": "Ivacaftor is not recommended",
"classification": "Moderate",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
"function": "ivacaftor non-responsive",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CFTR",
"name": "ivacaftor non-responsive CFTR sequence",
"function": "ivacaftor non-responsive",
"reference": true,
"activityValue": "n/a"
},
"gene": "CFTR",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference/Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": true,
"otherPrescribingGuidance": false,
"phenotypes": {
"CFTR": "ivacaftor non-responsive in CF patients"
},
"lookupKey": {
"CFTR": "ivacaftor non-responsive in CF patients"
}
}
]
}
]
},
"kanamycin": {
"name": "kanamycin",
"id": "PA450137",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
"MT-RNR1: Normal risk of developing hearing loss if administered an aminoglycoside antibiotic."
],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
},
"lookupKey": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
}
}
]
}
]
},
"lansoprazole": {
"name": "lansoprazole",
"id": "PA450180",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166219103"
],
"citations": [
{
"pmid": "32770672",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868475"
}
],
"guidelines": [
{
"id": "PA166219103",
"name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103",
"annotations": [
{
"implications": [
"CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs"
],
"drugRecommendation": "Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses.\nMonitor for efficacy.",
"classification": "Moderate",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
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],
"outsidePhenotype": false,
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"activityScore": null,
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"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*1/*1",
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"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"lornoxicam": {
"name": "lornoxicam",
"id": "PA165958395",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "32189324",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2020,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080882"
}
],
"guidelines": [
{
"id": "PA166191841",
"name": "Annotation of CPIC Guideline for celecoxib, flurbiprofen, ibuprofen, lornoxicam and CYP2C9",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166191841",
"annotations": [
{
"implications": [
"CYP2C9: Normal metabolism"
],
"drugRecommendation": "Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
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}
}
]
}
]
},
"lovastatin": {
"name": "lovastatin",
"id": "PA450272",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "35152405",
"title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035072"
}
],
"guidelines": [
{
"id": "PA166262241",
"name": "Annotation of CPIC Guideline for lovastatin and SLCO1B1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166262241",
"annotations": [
{
"implications": [
"SLCO1B1: Typical myopathy risk and statin exposure"
],
"drugRecommendation": "Prescribe desired starting dose and adjust doses based on disease-specific guidelines.\nOther Considerations
\nThe potential for drug-drug interactions and dose limits based on renal and hepatic function and ancestry should be evaluated prior to initiating a statin.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "SLCO1B1",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "SLCO1B1",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"SLCO1B1": "Normal Function"
},
"lookupKey": {
"SLCO1B1": "Normal Function"
}
}
]
}
]
},
"meloxicam": {
"name": "meloxicam",
"id": "PA450353",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166192301"
],
"citations": [
{
"pmid": "32189324",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2020,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080882"
}
],
"guidelines": [
{
"id": "PA166192301",
"name": "Annotation of CPIC Guideline for meloxicam and CYP2C9",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192301",
"annotations": [
{
"implications": [
"CYP2C9: Normal metabolism"
],
"drugRecommendation": "Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C9": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C9": "2.0"
}
}
]
}
]
},
"mercaptopurine": {
"name": "mercaptopurine",
"id": "PA450379",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
{
"pmid": "21270794",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098761"
},
{
"pmid": "23422873",
"title": "Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604643"
},
{
"pmid": "30447069",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.",
"journal": "Clinical pharmacology and therapeutics",
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"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6576267"
}
],
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{
"id": "PA166104945",
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"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104945",
"annotations": [
{
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"activityScore": {},
"population": "general",
"genotypes": [
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"diplotypes": [
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]
}
],
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"dosingInformation": false,
"alternateDrugAvailable": false,
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"lookupKey": {
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}
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}
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},
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"name": "methoxyflurane",
"id": "PA450434",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "30499100",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6513720"
}
],
"guidelines": [
{
"id": "PA166303941",
"name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941",
"annotations": [
{
"implications": [
"These results do not eliminate the chance that this patient is susceptible to malignant hyperthermia (MH). The genetic cause of about half of all MH survivors, with MH susceptibility confirmed by contracture test, remains unknown (PMID 28902675)."
],
"drugRecommendation": "Clinical findings, family history, further genetic testing and other laboratory data should guide use of halogenated volatile anesthetics or depolarizing muscle relaxants.",
"classification": "Strong",
"activityScore": {},
"population": "general",
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},
{
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}
}
]
}
],
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"otherPrescribingGuidance": true,
"phenotypes": {
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},
"lookupKey": {
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}
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}
]
},
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"id": "PA450457",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "24787449",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111801"
},
{
"pmid": "36049896",
"title": "Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/36049896"
}
],
"guidelines": [
{
"id": "PA166119846",
"name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846",
"annotations": [
{
"implications": [
"G6PD: Low risk of acute hemolytic anemia"
],
"drugRecommendation": "No reason to avoid based on G6PD status",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"gene": "G6PD",
"phenotypes": [
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"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
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"lookupKey": {
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}
}
]
}
]
},
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"id": "PA450480",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "38951961",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2D6, ADRB1, ADRB2, ADRA2C, GRK4, and GRK5 Genotypes and Beta-Blocker Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2024,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/38951961"
}
],
"guidelines": [
{
"id": "PA166341321",
"name": "Annotation of CPIC Guideline for metoprolol and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166341321",
"annotations": [
{
"implications": [
"Decreased metabolism of metoprolol leading to increased drug concentrations; however, this does not appear to translate into clinically significant changes in heart rate, blood pressure, or clinical outcomes"
],
"drugRecommendation": "Initiate standard dosing",
"classification": "Moderate",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
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"reference": false,
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},
"allele2": {
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"name": "*4",
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"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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"label": "*2/*4",
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}
]
}
],
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"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"neomycin": {
"name": "neomycin",
"id": "PA450608",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
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"implications": [
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],
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\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
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"phenotypes": [
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"lookupKey": {
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}
]
}
]
},
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"id": "PA164754913",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
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],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"diplotypes": [
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"name": "Reference",
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"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "Reference",
"inferred": false,
"combination": false,
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"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
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},
"lookupKey": {
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}
}
]
}
]
},
"nitrofurantoin": {
"name": "nitrofurantoin",
"id": "PA450640",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [],
"guidelines": [
{
"id": "PA166279721",
"name": "Annotation of CPIC Guideline for nitrofurantoin and G6PD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166279721",
"annotations": [
{
"implications": [
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],
"drugRecommendation": "No reason to avoid based on G6PD status",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"gene": "G6PD",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"G6PD": "Normal"
},
"lookupKey": {
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}
}
]
}
]
},
"nortriptyline": {
"name": "nortriptyline",
"id": "PA450657",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104998"
],
"citations": [
{
"pmid": "23486447",
"title": "Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689226"
},
{
"pmid": "27997040",
"title": "Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478479"
}
],
"guidelines": [
{
"id": "PA166104998",
"name": "Annotation of CPIC Guideline for nortriptyline and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104998",
"annotations": [
{
"implications": [
"CYP2D6: Reduced metabolism of tricyclic antidepressants to less active compounds compared to normal metabolizers. Higher plasma concentrations of active drug will increase the probability of side effects."
],
"drugRecommendation": "Consider a 25% reduction of recommended starting dose. Titrate dose to observed clinical response with symptom improvement and minimal (if any) side effects. Utilize therapeutic drug monitoring to guide dose adjustments.\nOther Considerations
\nPatients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of tricyclic antidepressants for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain.",
"classification": "Optional",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"omeprazole": {
"name": "omeprazole",
"id": "PA450704",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "32770672",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868475"
}
],
"guidelines": [
{
"id": "PA166219103",
"name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103",
"annotations": [
{
"implications": [
"CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs"
],
"drugRecommendation": "Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses.\nMonitor for efficacy.",
"classification": "Moderate",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"ondansetron": {
"name": "ondansetron",
"id": "PA450705",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166161954"
],
"citations": [
{
"pmid": "28002639",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479760"
}
],
"guidelines": [
{
"id": "PA166161954",
"name": "Annotation of CPIC Guideline for ondansetron and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161954",
"annotations": [
{
"implications": [
"CYP2D6: Very limited data available for CYP2D6 intermediate metabolizers"
],
"drugRecommendation": "Insufficient evidence demonstrating clinical impact based on CYP2D6 genotype. Initiate therapy with recommended starting dose.\nOther Considerations
\nDrug-drug interactions and other patient characteristics (e.g., age, renal function, and liver function) should be considered when selecting alternative therapy.",
"classification": "No recommendation",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"oxcarbazepine": {
"name": "oxcarbazepine",
"id": "PA450732",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166176623"
],
"citations": [
{
"pmid": "29392710",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2018,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5847474"
}
],
"guidelines": [
{
"id": "PA166176623",
"name": "Annotation of CPIC Guideline for oxcarbazepine and HLA-B",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166176623",
"annotations": [
{
"implications": [
"HLA-B: Normal risk of oxcarbazepine-induced SJS/TEN"
],
"drugRecommendation": "Use oxcarbazepine per standard dosing guidelines.",
"classification": "Strong",
"activityScore": {},
"population": "OXC naive",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"HLA-B": "*15:02 negative"
},
"lookupKey": {
"HLA-B": "*15:02 negative"
}
},
{
"implications": [
"HLA-B: Normal risk of oxcarbazepine-induced SJS/TEN"
],
"drugRecommendation": "Use oxcarbazepine per standard dosing guidelines.",
"classification": "Strong",
"activityScore": {},
"population": "OXC use >3 mos",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "HLA-B",
"name": "*38:01",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "HLA-B",
"name": "*35:08",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "HLA-B",
"phenotypes": [
"*15:02 negative",
"*57:01 negative",
"*58:01 negative"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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"*57:01 negative",
"*58:01 negative"
],
"label": "*35:08/*38:01",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"HLA-B": "*15:02 negative"
},
"lookupKey": {
"HLA-B": "*15:02 negative"
}
}
]
}
]
},
"pantoprazole": {
"name": "pantoprazole",
"id": "PA450774",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166219103"
],
"citations": [
{
"pmid": "32770672",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868475"
}
],
"guidelines": [
{
"id": "PA166219103",
"name": "Annotation of CPIC Guideline for lansoprazole, omeprazole, pantoprazole and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166219103",
"annotations": [
{
"implications": [
"CYP2C19: Normal PPI metabolism; may be at increased risk of therapeutic failure compared to CYP2C19 IMs and PMs"
],
"drugRecommendation": "Initiate standard starting daily dose. Consider increasing dose by 50-100% for the treatment of H. pylori infection and erosive esophagitis. Daily dose may be given in divided doses.\nMonitor for efficacy.",
"classification": "Moderate",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"paromomycin": {
"name": "paromomycin",
"id": "PA164784023",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
"MT-RNR1: Normal risk of developing hearing loss if administered an aminoglycoside antibiotic."
],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"normal risk of aminoglycoside-induced hearing loss"
],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
},
"lookupKey": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
}
}
]
}
]
},
"paroxetine": {
"name": "paroxetine",
"id": "PA450801",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166127636"
],
"citations": [
{
"pmid": "25974703",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2015,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512908"
},
{
"pmid": "37032427",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2023,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/37032427"
}
],
"guidelines": [
{
"id": "PA166127636",
"name": "Annotation of CPIC Guideline for paroxetine and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127636",
"annotations": [
{
"implications": [
"CYP2D6: Reduced metabolism of paroxetine to less active compounds when compared to CYP2D6 normal metabolizers when starting treatment or at lower doses. Higher plasma concentrations may increase the probability of side\neffects. Paroxetine-associated phenoconversion of intermediate metabolizers to poor metabolizers due to CYP2D6 autoinhibition may occur and is dose-dependent and greater at steady state concentrations."
],
"drugRecommendation": "Consider a lower starting dose and slower titration schedule as compared to normal metabolizers.\nOther Considerations
\nDrug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when adjusting dose or selecting an alternative therapy.",
"classification": "Optional",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"peginterferon alfa-2a": {
"name": "peginterferon alfa-2a",
"id": "PA164749390",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166110235"
],
"citations": [
{
"pmid": "24096968",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-alpha-based regimens.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904555"
}
],
"guidelines": [
{
"id": "PA166110235",
"name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235",
"annotations": []
}
]
},
"peginterferon alfa-2b": {
"name": "peginterferon alfa-2b",
"id": "PA164784024",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166110235"
],
"citations": [
{
"pmid": "24096968",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for IFNL3 (IL28B) genotype and PEG interferon-alpha-based regimens.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3904555"
}
],
"guidelines": [
{
"id": "PA166110235",
"name": "Annotation of CPIC Guideline for peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and IFNL3",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166110235",
"annotations": []
}
]
},
"pegloticase": {
"name": "pegloticase",
"id": "PA165963961",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166119846"
],
"citations": [
{
"pmid": "24787449",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111801"
},
{
"pmid": "36049896",
"title": "Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/36049896"
}
],
"guidelines": [
{
"id": "PA166119846",
"name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846",
"annotations": [
{
"implications": [
"G6PD: Low risk of acute hemolytic anemia"
],
"drugRecommendation": "No reason to avoid based on G6PD status",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"gene": "G6PD",
"phenotypes": [
"Normal"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal"
],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"G6PD": "Normal"
},
"lookupKey": {
"G6PD": "Normal"
}
}
]
}
]
},
"phenytoin": {
"name": "phenytoin",
"id": "PA450947",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [
{
"rule_name": "Phenytoin_HLA-B warning",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": [
"phenytoin",
"fosphenytoin"
]
},
"exception_type": "note",
"message": "The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele (\"HLA-B*15:02-positive\") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin."
}
],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166122806"
],
"citations": [
{
"pmid": "25099164",
"title": "Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206662"
},
{
"pmid": "32779747",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831382"
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},
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"source": "CPIC_GUIDELINE",
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"messages": [],
"variants": [],
"urls": [
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"citations": [
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"year": 2015,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512908"
},
{
"pmid": "37032427",
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],
"guidelines": [
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"id": "PA166127639",
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"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166127639",
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],
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"classification": "Strong",
"activityScore": {},
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"genotypes": [
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"diplotypes": [
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"source": "CPIC_GUIDELINE",
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"pmid": "30499100",
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"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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"citations": [
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"pmid": "22617227",
"title": "The clinical pharmacogenomics implementation consortium: CPIC guideline for SLCO1B1 and simvastatin-induced myopathy.",
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},
{
"pmid": "24918167",
"title": "The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
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{
"pmid": "35152405",
"title": "The Clinical Pharmacogenetics Implementation Consortium Guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and Statin-Associated Musculoskeletal Symptoms.",
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"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9035072"
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"guidelines": [
{
"id": "PA166105005",
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"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105005",
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"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
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"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
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"id": "PA166229081",
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"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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},
"allele2": null,
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],
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"lookupKey": [
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"lookupKey": {
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}
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}
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},
"succinylcholine": {
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"source": "CPIC_GUIDELINE",
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"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": "30499100",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
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"name": "Annotation of CPIC Guideline for desflurane, enflurane, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine and CACNA1S, RYR1",
"source": "CPIC_GUIDELINE",
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"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166303941",
"annotations": [
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"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"diplotypes": [
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"reference": true,
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"reference": true,
"activityValue": "n/a"
},
"gene": "CACNA1S",
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"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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"label": "Reference/Reference",
"inferred": false,
"combination": false,
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"diplotypeKey": {}
},
{
"allele1": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "RYR1",
"name": "Reference",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "RYR1",
"phenotypes": [
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"dosingInformation": false,
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"otherPrescribingGuidance": true,
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"RYR1": "Uncertain Susceptibility"
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"lookupKey": {
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}
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},
"tacrolimus": {
"name": "tacrolimus",
"id": "PA451578",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166124619"
],
"citations": [
{
"pmid": "25801146",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2015,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481158"
}
],
"guidelines": [
{
"id": "PA166124619",
"name": "Annotation of CPIC Guideline for tacrolimus and CYP3A5",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166124619",
"annotations": [
{
"implications": [
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"drugRecommendation": "Initiate therapy with standard recommended dose. Use therapeutic drug monitoring to guide dose adjustments.\nOther Considerations
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"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"diplotypes": [
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"reference": false,
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"allele2": {
"gene": "CYP3A5",
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"function": "No function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP3A5",
"phenotypes": [
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],
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"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
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"variant": null,
"lookupKey": [
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"label": "*3/*3",
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}
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}
],
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"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
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}
}
]
}
]
},
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"id": "PA166115580",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166119846"
],
"citations": [
{
"pmid": "24787449",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111801"
},
{
"pmid": "36049896",
"title": "Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/36049896"
}
],
"guidelines": [
{
"id": "PA166119846",
"name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846",
"annotations": [
{
"implications": [
"G6PD: Low risk of acute hemolytic anemia"
],
"drugRecommendation": "No reason to avoid based on G6PD status\nOther Considerations
\nTafenoquine’s safety has been established for a G6PD enzyme activity ≥70% of normal. (Inclusion criteria for clinical trials involving tafenoquine included G6PD activity ≥70%.)",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
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"diplotypes": [
{
"allele1": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"gene": "G6PD",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
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},
"lookupKey": {
"G6PD": "Normal"
}
}
]
}
]
},
"tamoxifen": {
"name": "tamoxifen",
"id": "PA451581",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166176068"
],
"citations": [
{
"pmid": "29385237",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and Tamoxifen Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2018,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931215"
}
],
"guidelines": [
{
"id": "PA166176068",
"name": "Annotation of CPIC Guideline for tamoxifen and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166176068",
"annotations": [
{
"implications": [
"CYP2D6: Lower endoxifen concentrations compared to normal metabolizers; higher risk of breast cancer recurrence, event-free and recurrence-free survival compared to normal metabolizers."
],
"drugRecommendation": "Consider hormonal therapy such as an aromatase inhibitor for postmenopausal women or aromatase inhibitor along with ovarian function suppression in premenopausal women, given that these approaches are superior to tamoxifen regardless of CYP2D6 genotype (PMID 26211827). If aromatase inhibitor use is contraindicated, consideration should be given to use a higher but FDA approved tamoxifen dose (40 mg/day)(PMID 27226358). Avoid CYP2D6 strong to weak inhibitors.",
"classification": "Optional",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": true,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"tenoxicam": {
"name": "tenoxicam",
"id": "PA131890625",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166192341"
],
"citations": [
{
"pmid": "32189324",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2020,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080882"
}
],
"guidelines": [
{
"id": "PA166192341",
"name": "Annotation of CPIC Guideline for tenoxicam and CYP2C9",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166192341",
"annotations": [
{
"implications": [
"CYP2C9: Normal metabolism"
],
"drugRecommendation": "Initiate therapy with recommended starting dose. In accordance with the prescribing information, use the lowest effective dosage for shortest duration consistent with individual patient treatment goals.",
"classification": "Strong",
"activityScore": {
"CYP2C9": "2.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C9": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C9": "2.0"
}
}
]
}
]
},
"thioguanine": {
"name": "thioguanine",
"id": "PA451663",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104965"
],
"citations": [
{
"pmid": "21270794",
"title": "Clinical Pharmacogenetics Implementation Consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3098761"
},
{
"pmid": "23422873",
"title": "Clinical pharmacogenetics implementation consortium guidelines for thiopurine methyltransferase genotype and thiopurine dosing: 2013 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604643"
},
{
"pmid": "30447069",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2019,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6576267"
}
],
"guidelines": [
{
"id": "PA166104965",
"name": "Annotation of CPIC Guideline for thioguanine and NUDT15, TPMT",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104965",
"annotations": [
{
"implications": [
"NUDT15: Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression",
"TPMT: Lower concentrations of TGN metabolites, but note that TGN after thioguanine are 5-10X higher than TGN after mercaptopurine or azathioprine. Normal risk of thiopurine-related leukopenia, neutropenia, myelosuppression."
],
"drugRecommendation": "Start with normal starting dose (e.g., 40-60 mg/m2/day) and adjust doses of thioguanine and of other myelosuppressive therapy without any special emphasis on thioguanine. Allow 2 weeks to reach steady-state after each dose adjustment (PMID 20354201, 11037857).\nOther Considerations
\nNormal starting doses vary by race/ethnicity and treatment regimens. If standard dose is below normal recommended dose, dose reduction might not be recommended for intermediate metabolizers.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "NUDT15",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "NUDT15",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "NUDT15",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "TPMT",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"NUDT15": "Normal Metabolizer",
"TPMT": "Normal Metabolizer"
},
"lookupKey": {
"NUDT15": "Normal Metabolizer",
"TPMT": "Normal Metabolizer"
}
}
]
}
]
},
"tobramycin": {
"name": "tobramycin",
"id": "PA451704",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166229081"
],
"citations": [
{
"pmid": "34032273",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613315"
}
],
"guidelines": [
{
"id": "PA166229081",
"name": "Annotation of CPIC Guideline for amikacin, dibekacin, gentamicin, kanamycin, neomycin, netilmicin, paromomycin, plazomicin, ribostamycin, streptomycin, tobramycin and MT-RNR1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166229081",
"annotations": [
{
"implications": [
"MT-RNR1: Normal risk of developing hearing loss if administered an aminoglycoside antibiotic."
],
"drugRecommendation": "Use aminoglycoside antibiotics at standard doses for the shortest feasible course with therapeutic dose monitoring. Evaluate regularly for hearing loss in line with local guidance.\nOther Considerations
\nIndividuals without MT-RNR1 aminoglycoside-induced hearing loss increased risk variants are still at risk of aminoglycoside-associated hearing loss, especially with high drug levels or prolonged courses.",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "MT-RNR1",
"name": "Reference",
"function": "Normal risk of aminoglycoside-induced hearing loss",
"reference": true,
"activityValue": "n/a"
},
"allele2": null,
"gene": "MT-RNR1",
"phenotypes": [
"normal risk of aminoglycoside-induced hearing loss"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"normal risk of aminoglycoside-induced hearing loss"
],
"label": "Reference",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
},
"lookupKey": {
"MT-RNR1": "normal risk of aminoglycoside-induced hearing loss"
}
}
]
}
]
},
"toluidine blue": {
"name": "toluidine blue",
"id": "PA166268821",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166119846"
],
"citations": [
{
"pmid": "24787449",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2014,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111801"
},
{
"pmid": "36049896",
"title": "Expanded Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Medication Use in the Context of G6PD Genotype.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/36049896"
}
],
"guidelines": [
{
"id": "PA166119846",
"name": "Annotation of CPIC Guideline for dapsone, methylene blue, pegloticase, rasburicase, tafenoquine, toluidine blue and G6PD",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166119846",
"annotations": [
{
"implications": [
"G6PD: Low risk of acute hemolytic anemia"
],
"drugRecommendation": "No reason to avoid based on G6PD status\nOther Considerations
\nToluidine blue classification strength is based on extrapolation from methylene blue data",
"classification": "Strong",
"activityScore": {},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "G6PD",
"name": "B (reference)",
"function": "IV/Normal",
"reference": true,
"activityValue": "n/a"
},
"gene": "G6PD",
"phenotypes": [
"Normal"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal"
],
"label": "B (reference)/B (reference)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"G6PD": "Normal"
},
"lookupKey": {
"G6PD": "Normal"
}
}
]
}
]
},
"tramadol": {
"name": "tramadol",
"id": "PA451735",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166228101"
],
"citations": [
{
"pmid": "33387367",
"title": "Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT Genotypes and Select Opioid Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2021,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8249478"
}
],
"guidelines": [
{
"id": "PA166228101",
"name": "Annotation of CPIC Guideline for tramadol and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166228101",
"annotations": [
{
"implications": [
"CYP2D6: Reduced O-desmethyltramadol (active metabolite) formation"
],
"drugRecommendation": "Use tramadol label recommended age- or weight-specific dosing. If no response and opioid use is warranted, consider non-codeine opioid.",
"classification": "Optional",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": true,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"trimipramine": {
"name": "trimipramine",
"id": "PA451791",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166105001"
],
"citations": [
{
"pmid": "23486447",
"title": "Clinical Pharmacogenetics Implementation Consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2013,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689226"
},
{
"pmid": "27997040",
"title": "Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478479"
}
],
"guidelines": [
{
"id": "PA166105001",
"name": "Annotation of CPIC Guideline for trimipramine and CYP2C19, CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166105001",
"annotations": [
{
"implications": [
"CYP2C19: Normal metabolism of tertiary amines",
"CYP2D6: Reduced metabolism of TCAs to less active compounds compared to normal metabolizers; Higher plasma concentrations of active drug will increase the probability of side effects"
],
"drugRecommendation": "Consider a 25% reduction of recommended starting dose. Utilize therapeutic drug monitoring to guide dose adjustments.\nOther Considerations
\nPatients may receive an initial low dose of a tricyclic, which is then increased over several days to the recommended steady-state dose. The starting dose in this guideline refers to the recommended steady-state dose. Dosing recommendations only apply to higher initial doses of TCAs for treatment of conditions such as depression. See other considerations for dosing recommendations for conditions where lower initial doses are used, such as neuropathic pain.",
"classification": "Optional",
"activityScore": {
"CYP2C19": "n/a",
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer",
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer",
"CYP2D6": "1.0"
}
}
]
}
]
},
"tropisetron": {
"name": "tropisetron",
"id": "PA161925594",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166161955"
],
"citations": [
{
"pmid": "28002639",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479760"
}
],
"guidelines": [
{
"id": "PA166161955",
"name": "Annotation of CPIC Guideline for tropisetron and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161955",
"annotations": [
{
"implications": [
"CYP2D6: Very limited data available for CYP2D6 intermediate metabolizers"
],
"drugRecommendation": "Insufficient evidence demonstrating clinical impact based on CYP2D6 genotype. Initiate therapy with recommended starting dose.\nOther Considerations
\nDrug-drug interactions and other patient characteristics (e.g., age, renal function, and liver function) should be considered when selecting alternative therapy.",
"classification": "No recommendation",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"venlafaxine": {
"name": "venlafaxine",
"id": "PA451866",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166288201"
],
"citations": [
{
"pmid": "37032427",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2023,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/37032427"
}
],
"guidelines": [
{
"id": "PA166288201",
"name": "Annotation of CPIC Guideline for venlafaxine and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288201",
"annotations": [
{
"implications": [
"CYP2D6: Decreased metabolism of venlafaxine to active metabolite O-desmethylvenlafaxine (desvenlafaxine) and decreased O-desmethylvenlafaxine:venlafaxine ratio as compared to normal metabolizers. There is insufficient evidence supporting the clinical impact of the decreased O-desmethylvenlafaxine:venlafaxine ratio in CYP2D6 intermediate metabolizers."
],
"drugRecommendation": "No action recommended based on genotype for venlafaxine because of minimal evidence regarding the impact on efficacy or side effects.",
"classification": "No recommendation",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"voriconazole": {
"name": "voriconazole",
"id": "PA10233",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166161537"
],
"citations": [
{
"pmid": "27981572",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5474211"
}
],
"guidelines": [
{
"id": "PA166161537",
"name": "Annotation of CPIC Guideline for voriconazole and CYP2C19",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166161537",
"annotations": [
{
"implications": [
"CYP2C19: Normal voriconazole metabolism"
],
"drugRecommendation": "Initiate therapy with recommended standard of care dosing\nOther Considerations
\nFurther dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities.",
"classification": "Strong",
"activityScore": {},
"population": "adults",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
},
{
"implications": [
"CYP2C19: Normal voriconazole metabolism"
],
"drugRecommendation": "Initiate therapy with recommended standard of care dosing\nOther Considerations
\nFurther dose adjustments or selection of alternative therapy may be necessary due to other clinical factors, such as drug interactions, hepatic function, renal function, species, site of infection, therapeutic drug monitoring, and comorbidities.",
"classification": "Strong",
"activityScore": {},
"population": "pediatrics",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"vortioxetine": {
"name": "vortioxetine",
"id": "PA166122595",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166288221"
],
"citations": [
{
"pmid": "37032427",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2023,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/37032427"
}
],
"guidelines": [
{
"id": "PA166288221",
"name": "Annotation of CPIC Guideline for vortioxetine and CYP2D6",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166288221",
"annotations": [
{
"implications": [
"CYP2D6: Reduced metabolism of vortioxetine to less active compounds when compared to CYP2D6 normal metabolizers. Higher plasma concentrations may increase the probability of side effects."
],
"drugRecommendation": "Initiate therapy with recommended starting dose.",
"classification": "Moderate",
"activityScore": {
"CYP2D6": "1.0"
},
"population": "general",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"warfarin": {
"name": "warfarin",
"id": "PA451906",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [
{
"rule_name": "pcat-cpic-warfarin-1-flowchart",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": [
"warfarin"
]
},
"exception_type": "note",
"message": "Please follow the flow chart in figure 2 of the CPIC warfarin guideline to determine the appropriate dosing recommendation."
},
{
"rule_name": "pcat-cpic-warfarin-2-vkorc1",
"version": "1",
"matches": {
"gene": null,
"hapsCalled": [],
"hapsMissing": [],
"variantsMissing": [],
"variant": null,
"dips": [],
"drugs": [
"warfarin"
]
},
"exception_type": "note",
"message": "The CPIC warfarin guideline only considers a single SNV in VKORC1 (rs9923231), which has varying frequency among different ancestral populations, and largely explains the differences in average dose requirements between people of European, African, and Asian descents. While other functional variants in VKORC1 have been associated with warfarin resistance (high dose requirements), there are currently no CPIC recommendations for how to use these other variants in warfarin dosing. An alternate name for rs9923231 is -1639G>A (note that VKORC1 is on the negative chromosomal strand, so displayed alleles are complemented). "
}
],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104949"
],
"citations": [
{
"pmid": "21900891",
"title": "Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3187550"
},
{
"pmid": "28198005",
"title": "Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics-Guided Warfarin Dosing: 2017 Update.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2017,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546947"
}
],
"guidelines": [
{
"id": "PA166104949",
"name": "Annotation of CPIC Guideline for warfarin and CYP2C9, CYP4F2, VKORC1",
"source": "CPIC_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104949",
"annotations": [
{
"implications": [],
"drugRecommendation": null,
"classification": null,
"activityScore": {},
"population": "n/a",
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "1.0"
},
"gene": "CYP2C9",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "2.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"2.0"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "CYP4F2",
"name": "*4",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "CYP4F2",
"name": "*5",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "CYP4F2",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "*4/*5",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
},
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": null,
"reference": false,
"activityValue": null
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": null,
"reference": false,
"activityValue": null
},
"gene": "VKORC1",
"phenotypes": [],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "CPIC",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [
"rs12777823:Unknown"
],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {},
"lookupKey": {}
}
]
}
]
}
},
"DPWG Guideline Annotation": {
"abacavir": {
"name": "abacavir",
"id": "PA448004",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104991"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166104991",
"name": "Annotation of DPWG Guideline for abacavir and HLA-B",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104991",
"annotations": []
}
]
},
"acenocoumarol": {
"name": "acenocoumarol",
"id": "PA452632",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104938"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166104938",
"name": "Annotation of DPWG Guideline for acenocoumarol and VKORC1",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104938",
"annotations": [
{
"implications": [
"An INR ≥ 6, resulting in an increased risk of bleeding, occurs in 8-12% of these patients during the first weeks of treatment with standard regulation by the Anticoagulation Clinic. The genetic variation increases the sensitivity to acenocoumarol."
],
"drugRecommendation": "Monitoring by the ANTICOAGULATION CLINIC (National INR Monitoring Service):\n\n- recommend to use 50% of the standard initial dose
\n
\nOTHERWISE:\n\n- recommend to use 50% of the standard initial dose
\n- recommend more frequent monitoring of the INR
\n
",
"classification": "Unspecified",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"gene": "VKORC1",
"phenotypes": [
"-1639 AA"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"-1639 AA"
],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"VKORC1": "-1639 AA"
},
"lookupKey": {
"VKORC1": "-1639 AA"
}
}
]
}
]
},
"allopurinol": {
"name": "allopurinol",
"id": "PA448320",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166264961",
"https://www.pharmgkb.org/guidelineAnnotation/PA166265141"
],
"citations": [
{
"pmid": "36056234",
"title": "Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate.",
"journal": "European journal of human genetics : EJHG",
"year": 2024,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10853275"
}
],
"guidelines": [
{
"id": "PA166264961",
"name": "Annotation of DPWG Guideline for allopurinol and ABCG2",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166264961",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of the ABCG2 rs2231142 GG genotype (c.421CC; p.141QQ) on allopurinol."
],
"drugRecommendation": "The guideline does not provide a recommendation for allopurinol in patients with the the ABCG2 rs2231142 GG genotype (c.421CC; p.141QQ)",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "ABCG2",
"name": "rs2231142 reference (G)",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "ABCG2",
"name": "rs2231142 reference (G)",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "ABCG2",
"phenotypes": [
"Normal Function"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Function"
],
"label": "rs2231142 reference (G)/rs2231142 reference (G)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"ABCG2": "Normal Function"
},
"lookupKey": {
"ABCG2": "Normal Function"
}
}
]
},
{
"id": "PA166265141",
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"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166184528",
"https://www.pharmgkb.org/guidelineAnnotation/PA166104964"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166184528",
"name": "Annotation of DPWG Guideline for clomipramine and CYP2C19",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166184528",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of a normal metabolizer phenotype on clomipramine."
],
"drugRecommendation": "The guideline does not provide a recommendation for clomipramine in normal metabolizers.",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
},
{
"id": "PA166104964",
"name": "Annotation of DPWG Guideline for clomipramine and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104964",
"annotations": [
{
"implications": [
"The risk of side effects may be increased, because the gene variation leads to increased plasma concentrations of clomipramine and the active metabolite desmethylclomipramine."
],
"drugRecommendation": "Use 70% of the standard dose and monitor the effect and side effects or the plasma concentrations of clomipramine and desmethylclomipramine.\nFor depression, the therapeutic range is 200-400 ng/mL for the sum of the plasma concentrations of clomipramine and desmethylclomipramine. For anxiety disorders, the therapeutic plasma concentration of clomipramine is approximately 100 ng/mL, in combination with a plasma concentration of desmethylclomipramine lower than 200 ng/mL. For obsessive compulsive disorder, the therapeutic plasma concentration of clomipramine is higher than 200 ng/mL, in combination with a plasma concentration of desmethylclomipramine that is as low as possible. A sum of the plasma concentrations of clomipramine and desmethylclomipramine higher than 600 ng/mL is considered toxic.",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"clopidogrel": {
"name": "clopidogrel",
"id": "PA449053",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104956"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166104956",
"name": "Annotation of DPWG Guideline for clopidogrel and CYP2C19",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104956",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of a normal metabolizer phenotype on clopidogrel."
],
"drugRecommendation": "The guideline does not provide a recommendation for clopidogrel in normal metabolizers.",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"codeine": {
"name": "codeine",
"id": "PA449088",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104970"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
},
{
"pmid": "34267337",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).",
"journal": "European journal of human genetics : EJHG",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/34267337"
}
],
"guidelines": [
{
"id": "PA166104970",
"name": "Annotation of DPWG Guideline for codeine and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104970",
"annotations": [
{
"implications": [
"The genetic variation reduces the conversion of codeine to morphine. This can result in reduced analgesia."
],
"drugRecommendation": "For PAIN:\nIt is not possible to offer adequately substantiated advice for dose adjustment based on the limited available literature for this phenotype.\n\n- Be alert to a reduced effectiveness.
\n- In the case of inadequate effectiveness: 1. Try a dose increase. 2. If this does not work: choose an alternative.\nDo not select tramadol, as this is also metabolised by CYP2D6. Morphine is not metabolised by CYP2D6. Oxycodone is metabolised by CYP2D6 to a limited extent, but this does not result in differences in analgesia in patients.
\n- If no alternative is selected: advise the patient to report inadequate analgesia.
\n
\nFor COUGH:\nNo action required.",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": true,
"otherPrescribingGuidance": true,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"doxepin": {
"name": "doxepin",
"id": "PA449409",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104994"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166104994",
"name": "Annotation of DPWG Guideline for doxepin and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104994",
"annotations": [
{
"implications": [
"The risk of side effects may be increased, because the gene variation leads to increased plasma concentrations of doxepin and the active metabolite nordoxepin."
],
"drugRecommendation": "Use 80% of the standard dose and monitor the effect and side effects or the plasma concentrations of doxepin and nordoxepin in order to set the maintenance dose. The therapeutic range is 100-250 ng/mL for the sum of doxepin and nordoxepin plasma concentrations. Values higher than 400 ng/mL are considered toxic.",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"efavirenz": {
"name": "efavirenz",
"id": "PA449441",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166182846"
],
"citations": [],
"guidelines": [
{
"id": "PA166182846",
"name": "Annotation of DPWG Guideline for efavirenz and CYP2B6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182846",
"annotations": []
}
]
},
"eliglustat": {
"name": "eliglustat",
"id": "PA166123486",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166182823"
],
"citations": [],
"guidelines": [
{
"id": "PA166182823",
"name": "Annotation of DPWG Guideline for eliglustat and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182823",
"annotations": [
{
"implications": [
"This gene variation reduces the conversion of eliglustat to inactive metabolites. However, in the absence of CYP2D6 and CYP3A inhibitors, this does not result in a clinically significant increased risk of side effects."
],
"drugRecommendation": "Co-medication with BOTH a MODERATE to STRONG CYP2D6 INHIBITOR AND a MODERATE to STRONG CYP3A INHIBITOR:\n\n- Eliglustat is contra-indicated. Choose an alternative if possible.
\n
\nStrong CYP2D6 inhibitor: for example paroxetine, fluoxetine, quinidine, bupropione. Moderate CYP2D6 inhibitor: for example duloxetine, terbinafine, moclobemide, mirabegron, cinacalcet, dronedarone. Strong CYP3A inhibitor: for example ketoconazole, clarithromycin, itraconazole, cobicistat, indinavir, lopinavir, ritonavir, saquinavir, telaprevir, tipranavir, posaconazole, voriconazole, telithromycin, conivaptan, boceprevir. Moderate CYP3A inhibitor: for example erythromycin, ciprofloxacin, fluconazole, diltiazem, verapamil, aprepitant, atazanavir, darunavir, fosamprenavir, imatinib, cimetidine.\nCo-medication with a STRONG CYP2D6 INHIBITOR (e.g. paroxetine, fluoxetine, quinidine, bupropione):\n\n- Use a dose of 84mg eliglustat 1x daily.
\n
\nCo-medication with a MODERATE CYP2D6 INHIBITOR (for example duloxetine, terbinafine, moclobemide, mirabegron, cinacalcet, dronedarone):\n\n- Consider a dose of 84mg eliglustat 1x daily. Be alert to side effects.
\n
\nCo-medication with a STRONG CYP3A INHIBITOR (for example ketoconazole, clarithromycin, itraconazole, cobicistat, indinavir, lopinavir, ritonavir, saquinavir, telaprevir, tipranavir, posaconazole, voriconazole, telithromycin, conivaptan, boceprevir):\n\n- Choose an alternative if possible.
\n- If an alternative is not an option: consider a dose of 84 mg eliglustat 1x daily and be alert to side effects.
\n
\nCo-medication with a MODERATE CYP3A INHIBITOR (for example erythromycin, ciprofloxacin, fluconazole, diltiazem, verapamil, aprepitant, atazanavir, darunavir, fosamprenavir, imatinib, cimetidine):\n\n- Choose an alternative.
\n- If an alternative is not an option: consider a dose of 84mg eliglustat 1x daily and be alert to side effects.
\n
\nCo-medication with a STRONG CYP3A INDUCER (for example rifampicin, carbamazepine, phenobarbital, phenytoin, rifabutine, hypericum): Eliglustat is not recommended. The plasma concentration may decrease so sharply that a therapeutic effect cannot be achieved.\n\n- Choose an alternative if possible.
\n
\nNO co-medication with a moderate or strong CYP2D6 or CYP3A inhibitor or strong CYP3A inducer:\n\n- Use the standard dose of 84mg 2x daily.
\n
",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": true,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"escitalopram": {
"name": "escitalopram",
"id": "PA10074",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104975"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
},
{
"pmid": "34782755",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs.",
"journal": "European journal of human genetics : EJHG",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/34782755"
}
],
"guidelines": [
{
"id": "PA166104975",
"name": "Annotation of DPWG Guideline for escitalopram and CYP2C19",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104975",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of a normal metabolizer phenotype on escitalopram."
],
"drugRecommendation": "The guideline does not provide a recommendation for escitalopram in normal metabolizers.",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
"flecainide": {
"name": "flecainide",
"id": "PA449646",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104969"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166104969",
"name": "Annotation of DPWG Guideline for flecainide and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104969",
"annotations": [
{
"implications": [
"The genetic variation reduces conversion of flecainide to inactive metabolites. This may increase the risk of side effects."
],
"drugRecommendation": "Indications other than diagnosis of Brugada syndrome:\n\n- Reduce the dose to 75% of the standard dose and record an ECG and monitor the plasma concentration.
\n
\nProvocation test for diagnosis of Brugada syndrome:\n\n- No action required. At a dose of 2.0 mg/kg body weight to a maximum of 150 mg, the response is better for patients with alleles that result in reduced activity. All 5 patients with these alleles and 20% of the patients with two fully active alleles exhibited a response within 30 minutes.
\n
",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"flucloxacillin": {
"name": "flucloxacillin",
"id": "PA164781042",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166182810"
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}
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},
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{
"implications": [
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{
"implications": [
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"id": "PA166265201",
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}
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},
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{
"pmid": "34782755",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs.",
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],
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{
"implications": [
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}
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}
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},
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"name": "phenprocoumon",
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"guidelines": [
{
"id": "PA166104940",
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"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104940",
"annotations": [
{
"implications": [
"An INR ≥ 6, resulting in an increased risk of bleeding, occurs in 17% of these patients with standard regulation by the Anticoagulation Clinic. The genetic variation increases the sensitivity to phenprocoumon."
],
"drugRecommendation": "Monitoring by a ANTICOAGULATION CLINIC:\n\n- recommend to use 50% of the standard initial dose
\n
\nNO monitoring by a anticoagulation clinic:\n\n- recommend to use 50% of the standard initial dose
\n- recommend more frequent monitoring of the INR
\n
",
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]
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{
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},
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"message": "The displayed recommendation for CYP2C9 and phenytoin is ONLY valid for non-carriers of the HLA-B*15:02 high-risk allele. PharmCAT Named Allele Matcher does not determine HLA status. CPIC guidance: Fos-/Phenytoin is contraindicated in individuals with the HLA-B*15:02 variant allele (\"HLA-B*15:02-positive\") due to significantly increased risk of fos-/phenytoin-induced cutaneous adverse reactions of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). In HLA-B*15:02 carriers, carbamazepine should not be used as an alternative. Alternative medications such as oxcarbazepine, eslicarbazepine acetate, and lamotrigine have some evidence linking SJS/TEN with the HLA-B*15:02 allele, and thus caution should be used in choosing alternatives to phenytoin."
}
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"id": "PA166264881",
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{
"pmid": "37002327",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics.",
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"id": "PA166182819",
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"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182819",
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"implications": [
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],
"drugRecommendation": "Use no more than the following doses (80% of the normal maximum dose):\n\n- 12 years and older: 16 mg/day
\n- younger than 12 years: 0.08 mg/kg per day to a maximum of 3 mg/day
\n
",
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}
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}
]
}
]
},
"propafenone": {
"name": "propafenone",
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"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
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],
"guidelines": [
{
"id": "PA166104962",
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"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"NUDT15": "Normal Metabolizer"
},
"lookupKey": {
"NUDT15": "Normal Metabolizer"
}
}
]
},
{
"id": "PA166104960",
"name": "Annotation of DPWG Guideline for thioguanine and TPMT",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104960",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of a normal metabolizer phenotype on thioguanine."
],
"drugRecommendation": "The guideline does not provide a recommendation for thioguanine in normal metabolizers.",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "TPMT",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "TPMT",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"TPMT": "Normal Metabolizer"
},
"lookupKey": {
"TPMT": "Normal Metabolizer"
}
}
]
}
]
},
"tramadol": {
"name": "tramadol",
"id": "PA451735",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104959"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
},
{
"pmid": "34267337",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6 and opioids (codeine, tramadol and oxycodone).",
"journal": "European journal of human genetics : EJHG",
"year": 2022,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/34267337"
}
],
"guidelines": [
{
"id": "PA166104959",
"name": "Annotation of DPWG Guideline for tramadol and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104959",
"annotations": [
{
"implications": [
"The genetic variation reduces the conversion of tramadol to a metabolite with a higher activity. This can result in reduced analgesia."
],
"drugRecommendation": "It is not possible to provide a recommendation for dose adjustment, because the total analgesic effect changes when the ratio between the mother compound and the active metabolite changes.\n\n- Be alert to a reduced effectiveness.
\n- In the case of inadequate effectiveness:
\n
\n\n- a. Try a dose increase.
\n- b. If this does not work: choose an alternative. Do not select codeine, as this is also metabolised by CYP2D6. Morphine is not metabolised by CYP2D6. Oxycodone is metabolised by CYP2D6 to a limited extent, but this does not result in differences in analgesia in patients.
\n
\n\n- If no alternative is selected: advise the patient to report inadequate analgesia.
\n
",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"1.0"
],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": true,
"otherPrescribingGuidance": true,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"venlafaxine": {
"name": "venlafaxine",
"id": "PA451866",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104968"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
},
{
"pmid": "38956296",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants.",
"journal": "European journal of human genetics : EJHG",
"year": 2024,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/38956296"
}
],
"guidelines": [
{
"id": "PA166104968",
"name": "Annotation of DPWG Guideline for venlafaxine and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104968",
"annotations": [
{
"implications": [
"There are indications of an increased risk of side effects and a reduced chance of efficacy. The gene variation reduces the conversion of venlafaxine to the active metabolite O-desmethylvenlafaxine, whilst an association between high O-desmethylvenlafaxine/venlafaxine ratios and response without side effects was found."
],
"drugRecommendation": "It is not possible to offer adequately substantiated advice for dose reduction based on the literature.\n\n- Avoid venlafaxine. Antidepressants that are not metabolised by CYP2D6 - or to a lesser extent - include, for example, duloxetine, mirtazapine, citalopram and sertraline.
\n- If it is not possible to avoid venlafaxine and side effects occur:
\n
\n\n- Reduce the dose
\n- Monitor the effect and side effects or check the plasma concentrations of venlafaxine and O-desmethylvenlafaxine.\nIt is not known whether it is possible to reduce the dose to such an extent that the side effects disappear, while the effectiveness is maintained. In general, it is assumed that the effectiveness is determined by the sum of the plasma concentrations of venlafaxine and O-desmethylvenlafaxine. However, the side effects do not appear to be related to this sum.
\n
",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
},
"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
"Intermediate Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": "1.0",
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*2/*4",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": true,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
},
"voriconazole": {
"name": "voriconazole",
"id": "PA10233",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104990"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
}
],
"guidelines": [
{
"id": "PA166104990",
"name": "Annotation of DPWG Guideline for voriconazole and CYP2C19",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104990",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of a normal metabolizer phenotype on voriconazole."
],
"drugRecommendation": "The guideline does not provide a recommendation for voriconazole in normal metabolizers.",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C19",
"name": "*1",
"function": "Normal function",
"reference": false,
"activityValue": "n/a"
},
"gene": "CYP2C19",
"phenotypes": [
"Normal Metabolizer"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
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],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": false,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2C19": "Normal Metabolizer"
},
"lookupKey": {
"CYP2C19": "Normal Metabolizer"
}
}
]
}
]
},
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"name": "warfarin",
"id": "PA451906",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166182842",
"https://www.pharmgkb.org/guidelineAnnotation/PA166182841"
],
"citations": [],
"guidelines": [
{
"id": "PA166182842",
"name": "Annotation of DPWG Guideline for warfarin and CYP2C9",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182842",
"annotations": [
{
"implications": [
"The guideline does not provide a description of the impact of a normal metabolizer phenotype on warfarin."
],
"drugRecommendation": "The guideline does not provide a recommendation for warfarin in normal metabolizers.",
"classification": "No recommendation",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"allele2": {
"gene": "CYP2C9",
"name": "*1",
"function": "Normal function",
"reference": true,
"activityValue": "n/a"
},
"gene": "CYP2C9",
"phenotypes": [
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],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"Normal Metabolizer"
],
"label": "*1/*1",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
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"phenotypes": {
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},
"lookupKey": {
"CYP2C9": "Normal Metabolizer"
}
}
]
},
{
"id": "PA166182841",
"name": "Annotation of DPWG Guideline for warfarin and VKORC1",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166182841",
"annotations": [
{
"implications": [
"The genetic variation results in increased sensitivity to warfarin. This results in an increase in the risk of excessively severe inhibition of blood clotting (INR > 4) during the\nfirst month of the treatment."
],
"drugRecommendation": "Use 60% of the standard initial dose.\nThe genotype-specific initial dose and maintenance dose can be calculated using an algorithm, as used in EU-PACT: see\nhttps://www.knmp.nl/patientenzorg/medicatiebewaking/farmacogenetica.\nFrom day 6 on the standard algorithm without genotype information can be used to calculate the dose.",
"classification": "Unspecified",
"activityScore": {},
"population": null,
"genotypes": [
{
"diplotypes": [
{
"allele1": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"allele2": {
"gene": "VKORC1",
"name": "rs9923231 variant (T)",
"function": "Higher coumarin sensitivity",
"reference": false,
"activityValue": "n/a"
},
"gene": "VKORC1",
"phenotypes": [
"-1639 AA"
],
"outsidePhenotype": false,
"outsidePhenotypeMismatch": null,
"activityScore": null,
"outsideActivityScore": false,
"outsideActivityScoreMismatch": null,
"variant": null,
"lookupKey": [
"-1639 AA"
],
"label": "rs9923231 variant (T)/rs9923231 variant (T)",
"inferred": false,
"combination": false,
"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"VKORC1": "-1639 AA"
},
"lookupKey": {
"VKORC1": "-1639 AA"
}
}
]
}
]
},
"zuclopenthixol": {
"name": "zuclopenthixol",
"id": "PA452629",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
"https://www.pharmgkb.org/guidelineAnnotation/PA166104992"
],
"citations": [
{
"pmid": "21412232",
"title": "Pharmacogenetics: from bench to byte--an update of guidelines.",
"journal": "Clinical pharmacology and therapeutics",
"year": 2011,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pubmed/21412232"
},
{
"pmid": "37002327",
"title": "Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics.",
"journal": "European journal of human genetics : EJHG",
"year": 2024,
"_sameAs": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10923774"
}
],
"guidelines": [
{
"id": "PA166104992",
"name": "Annotation of DPWG Guideline for zuclopenthixol and CYP2D6",
"source": "DPWG_GUIDELINE",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/guidelineAnnotation/PA166104992",
"annotations": [
{
"implications": [
"The risk of side effects may be elevated. The genetic variation leads to decreased conversion of zuclopentixol, which causes the plasma concentration to be approximately 1.35-fold higher."
],
"drugRecommendation": "Use 75% of the normal dose.",
"classification": "Unspecified",
"activityScore": {
"CYP2D6": "1.0"
},
"population": null,
"genotypes": [
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"diplotypes": [
{
"allele1": {
"gene": "CYP2D6",
"name": "*2",
"function": "Normal function",
"reference": false,
"activityValue": "1.0"
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"allele2": {
"gene": "CYP2D6",
"name": "*4",
"function": "No function",
"reference": false,
"activityValue": "0.0"
},
"gene": "CYP2D6",
"phenotypes": [
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],
"outsidePhenotype": false,
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"activityScore": "1.0",
"outsideActivityScore": false,
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"variant": null,
"lookupKey": [
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],
"label": "*2/*4",
"inferred": false,
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"phenotypeDataSource": "DPWG",
"diplotypeKey": {}
}
]
}
],
"messages": [],
"highlightedVariants": [],
"dosingInformation": true,
"alternateDrugAvailable": false,
"otherPrescribingGuidance": false,
"phenotypes": {
"CYP2D6": "Intermediate Metabolizer"
},
"lookupKey": {
"CYP2D6": "1.0"
}
}
]
}
]
}
},
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"abacavir": {
"name": "abacavir",
"id": "PA448004",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": null,
"title": "Drugs@FDA: Drug Product ZIAGEN (abacavir sulfate), NDA020977, ViiV Healthcare Company",
"journal": null,
"year": -1,
"_sameAs": "https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&varApplNo=020977"
}
],
"guidelines": [
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"id": "PA166104833",
"name": "Annotation of FDA Label for abacavir and HLA-B",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/labelAnnotation/PA166104833",
"annotations": []
}
]
},
"abrocitinib": {
"name": "abrocitinib",
"id": "PA166272921",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": null,
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"journal": null,
"year": -1,
"_sameAs": "https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&varApplNo=213871"
}
],
"guidelines": [
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"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/labelAnnotation/PA166272961",
"annotations": []
}
]
},
"acetaminophen / caffeine / dihydrocodeine": {
"name": "acetaminophen / caffeine / dihydrocodeine",
"id": "PA166246281",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": null,
"title": "Drugs@FDA: Drug Product Acetaminophen, Caffeine, Dihydrocodeine Bitartrate (Acetaminophen, Caffeine, Dihydrocodeine Bitartrate), ANDA204785, Xspire Pharma, Llc",
"journal": null,
"year": -1,
"_sameAs": "https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&varApplNo=204785"
}
],
"guidelines": [
{
"id": "PA166246301",
"name": "Annotation of FDA Label for acetaminophen / caffeine / dihydrocodeine and CYP2D6",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/labelAnnotation/PA166246301",
"annotations": []
}
]
},
"allopurinol": {
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"id": "PA448320",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": null,
"title": "Drugs@FDA: Drug Product ALOPRIM (allopurinol), NDA020298, Mylan",
"journal": null,
"year": -1,
"_sameAs": "https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&varApplNo=020298"
}
],
"guidelines": [
{
"id": "PA166234701",
"name": "Annotation of FDA Label for allopurinol and HLA-B",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/labelAnnotation/PA166234701",
"annotations": []
}
]
},
"amikacin": {
"name": "amikacin",
"id": "PA164744372",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
"pmid": null,
"title": "Drugs@FDA: Drug Product ARIKAYCE (Amikacin), NDA207356, Insmed Incorporated",
"journal": null,
"year": 2023,
"_sameAs": "https://www.accessdata.fda.gov/scripts/cder/daf/index.cfm?event=overview.process&varApplNo=207356"
}
],
"guidelines": [
{
"id": "PA166316321",
"name": "Annotation of FDA Label for amikacin and MT-RNR1",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"url": "https://www.pharmgkb.org/labelAnnotation/PA166316321",
"annotations": []
}
]
},
"aripiprazole": {
"name": "aripiprazole",
"id": "PA10026",
"source": "FDA_LABEL",
"version": "2024-08-27-21-12",
"messages": [],
"variants": [],
"urls": [
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],
"citations": [
{
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