Skip to main content
. 2019 Apr 24;27(8):1197–1214. doi: 10.1038/s41431-019-0384-7

Table 2.

Variants from the PharmGKB 1A/1B categories

PharmGKB category Gene Genomic position (hg19) Variants Type Chemicals Diseases Detection by WES Undetectable allelle
1A CFTR rs121909013:G>A Efficacy Ivacaftor Cystic fibrosis +
rs78655421:G>A Efficacy Ivacaftor Cystic fibrosis +
rs75527207:G>A Efficacy Ivacaftor Cystic fibrosis +
rs121908755:G>A Efficacy Ivacaftor Cystic fibrosis +
rs80282562:G>A Efficacy Ivacaftor Cystic fibrosis +
rs121908757:A>C Efficacy Ivacaftor Cystic fibrosis +
rs121909005:T>G Efficacy Ivacaftor Cystic fibrosis +
rs267606723:G>A Efficacy Ivacaftor Cystic fibrosis +
rs74503330:G>A Efficacy Ivacaftor Cystic fibrosis +
rs121909041:T>C Efficacy Ivacaftor Cystic fibrosis +
rs193922525:G>A Efficacy Ivacaftor Cystic fibrosis +
rs113993960 Efficacy Ivacaftor Cystic fibrosis +
1A CYP2C19 CYP2C19a17 (rs12248560:C>A) Dosage, efficacy, toxicity/ADR Clopidogrel Acute coronary syndrome, coronary artery disease, myocardial infarction − CYP2C19a17
CYP2C19a3 (rs4986893:G>A) Efficacy, toxicity/ADR Clopidogrel Acute coronary syndrome, coronary artery disease +
CYP2C19a2 (rs4244285:G>A), CYP2C19a3 (rs4986893:G>A), CYP2C19a4 (rs28399504:A>G), CYP2C19a17 (rs12248560:C>A) Efficacy, toxicity/ADR Citalopram, escitalopram Major depressive disorder − CYP2C19a17
CYP2C19a2 (rs4244285:G>A), CYP2C19a3 (rs4986893:G>A) Metabolism/PK Sertraline Major depressive disorder +
CYP2C19a2 (rs4244285:G>A), CYP2C19 a3 (rs4986893:G>A), CYP2C19a4 (rs28399504:A>G), CYP2C19a5 (rs56337013:C>T), CYP2C19a6 (rs72552267:G>A), CYP2C19a8 (rs41291556:T>C) Efficacy, toxicity/ADR Clopidogrel Acute coronary syndrome, coronary artery disease +
CYP2C19a2 (rs4244285:G>A), CYP2C19a3 (rs4986893:G>A), CYP2C19a17 (rs12248560:C>A) Efficacy, toxicity/ADR Amitriptyline Major depressive disorder − CYP2C19a17
CYP2C19a2 (rs4244285:G>A) Efficacy Amitriptyline Major depressive disorder +
CYP2C19a4 (rs28399504:A>G) Efficacy Clopidogrel Acute coronary syndrome, cardiovascular diseases +
CYP2C19a2 (rs4244285:G>A) Efficacy, toxicity/ADR Clopidogrel Acute coronary syndrome, cardiovascular diseases, thrombosis +
1A CYP2C9 CYP2C9a2 (rs1799853:C>T) Dosage Warfarin Arteriosclerosis, heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, pulmonary embolism, stroke, thromboembolism, venous thromboembolism, venous thrombosis +
CYP2C9a3 (rs1057910:A>C) Dosage, toxicity/ADR Warfarin Arteriosclerosis, heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, pulmonary embolism, stroke, thromboembolism, venous thromboembolism, venous thrombosis +
CYP2C9a2 (rs1799853:C>T), CYP2C9a3 (rs1057910A:>C) Dosage Warfarin Cardiovascular diseases, heart diseases +
Toxicity/ADR Phenytoin Epilepsy
1A CYP2D6 CYP2D6a1xN (no rs) Efficacy Ondansetron Neoplams, vomiting − CYP2D6 a1xN
CYP2D6a1xN (no rs), CYP2D6a2 (rs1058164:C>G, rs1135840:C>G, rs16947:G>A), CYP2D6a2xN (no rs), CYP2D6a3 (rs35742686), CYP2D6a4 (rs3892097:G>>A), CYP2D6a5 (no rs), CYP2D6a6 (rs5030655), CYP2D6a10 (rs1065852:C>T), CYP2D6a17 (rs28371706:G>A or rs28371706:G>T), CYP2D6a40 (no rs), CYP2D6a41 (rs28371725:C>T) Efficacy, toxicity/ADR Codeine Pain − CYP2D6 a1xN, CYP2D6 a2xN
CYP2D6a3 (rs35742686), CYP2D6a4 (rs3892097:G>A), CYP2D6a5 (no rs), CYP2D6a6 (rs5030655), CYP2D6a10 (rs1065852:C>T) Efficacy, toxicity/ADR, metabolism/PK Paroxetine Major depressive disorder, mental disorders, obsessive compulsive disorder − CYP2D6 a1xN, CYP2D6 a2xN
CYP2D6a1 (WT), CYP2D6a3 (rs35742686), CYP2D6a4 (rs3892097:G>A), CYP2D6a5 (no rs), CYP2D6a6 (rs5030655), CYP2D6a10 (rs1065852:C>T) Efficacy, toxicity/ADR, metabolism/PK Fluvoxamine Major depressive disorder, mental disorders, obsessive compulsive disorder +
CYP2D6a1 (WT), CYP2D6a1xN (no rs), CYP2D6a2 (no rs), CYP2D6a2xN (no rs), CYP2D6a3 (rs35742686), CYP2D6a4 (rs3892097:G>A), CYP2D6a5 (no rs), CYP2D6a6 (rs5030655), CYP2D6a10 (rs1065852:C>T), CYP2D6a41 (no rs) Efficacy, toxicity/ADR Amitriptyline Depressive disorder, major mental disorders, mood disorders − CYP2D6 a1xN, CYP2D6 a2xN
CYP2D6 *4 (rs3892097:G>A) Dosage, toxicity/ADR Amitriptyline, antidepressants, clomipramine, desipramine, doxepin, imipramine, nortriptyline, trimipramine Depressive disorder +
CYP2D6a1xN (no rs), CYP2D6a2 (no rs), CYP2D6a2xN (no rs), CYP2D6a3 (rs35742686), CYP2D6a4 (rs3892097:G>A), CYP2D6a5 (no rs), CYP2D6a6 (rs5030655), CYP2D6a10 (rs1065852:C>T) Efficacy, toxicity/ADR, metabolism/PK Nortriptyline Major depressive disorder − CYP2D6 a1xN, CYP2D6 a2xN
1A CYP3A5 CYP3A5a3 (rs776746:G>A) Dosage, metabolism/PK Tacrolimus Ulcerative colitis, heart transplantation, hemopoietic stem cell transplant, kidney transplantation, liver transplantation, lung transplantation − CYP3A5a3
1A DPYD DPYDa13 (rs55886062:T>G) Toxicity/ADR Capecitabine, fluorouracil, pyrimidine analogues, tegafur Neoplasms +
DPYDa2A (rs3918290:G>A) Toxicity/ADR Capecitabine, fluorouracil, pyrimidine analogues, tegafur Neoplasms +
rs67376798:A>T Toxicity/ADR Capecitabine, fluorouracil, pyrimidine analogues, tegafur Neoplasms +
1A G6PD G6PD A- 202A_376G, G6PD Mediterranean, Dallas, Panama’ Sassari, Cagliari, Birmingham Toxicity/ADR Rasburicase Haemolysis, methemoglobinemia, protein deficiency − G6PD
1A HLA-B HLA-Ba57:01:01 Toxicity/ADR Abacavir Drug hypersensitivity − HLA-B
HLA-Ba15:02:01 Toxicity/ADR Carbamazepine, Phenytoin Epidermal necrolysis, toxic, Stevens–Johnson syndrome
HLA-Ba58:01 Toxicity/ADR Allopurinol Gouty arthritis, drug hypersensitivity, toxic epidermal necrolysis, hyperuricemia, chronic kidney failure, Stevens–Johnson syndrome − HLA-B
1A IFNL3,IFNL4 rs12979860:G>A Efficacy Peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir Chronic hepatitis C − IFNL3
1A SLCO1B1 SLC01B1a5 (rs4149056:T>C) Toxicity/ADR Simvastatin Muscular diseases, myopathy, central core +
1A TPMT TPMTa2 (rs1800462:G>C), TPMTa3A (rs180460C>T, rs1142345:T>C), TPMTa3B (rs1800460:C>T), TPMTa3C (rs1142345:T>C), TPMTa4 (rs1800584:C>T) Dosage, toxicity/ADR Azathioprine, mercaptopurine, purine analogues, thioguanine Neoplams, graft +
1A UGT1A1 UGT1A1a1 (rs8175347:(TA)6>(TA)5; rs8175347:(TA)6>(TA)7; rs8175347:(TA)6>(TA)8) Toxicity/ADR Atazanavir, ritonavir HIV, HIV infections − UGT1A1
UGT1A1a80 (rs887829:C>T) Other Atazanavir HIV − UGT1A1
1A VKORC1 VKORC1a2 (rs9923231:C>A, rs9923231:C>G, rs9923231:C>T) Dosage Warfarin Arteriosclerosis, heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, pulmonary embolism, stroke, thromboembolism, venous thromboembolism, venous thrombosis − VKORC1
1B ANKK1 rs1800497:G>A Efficacy Bupropion Tobacco use disorder +
1B CYP2B6 CYP2B6a6 (rs3745274:G>A; rs3745274:G>T) Dosage Efavirenz HIV +
1B CYP2C19 CYP2C19a2 (rs4244285:G>A), CYP2C19a3 (rs4986893:G>A), CYP2C19a17 (rs12248560:C>A; rs12248560:C>T) Metabolism/PK Voriconazole Mycoses − CYP2C19a17
1B CYP2D6 CYP2D6a1xN (no rs), CYP2D6a2 (rs1135840), CYP2D6a2xN (no rs), CYP2D6a3 (rs35742686), CYP2D6a4 (rs3892097), CYP2D6a5 (no rs), CYP2D6a6 (rs5030655), CYP2D6a10 (rs1065852), Dosage, efficacy, toxicity/ADR Tramadol Pain − CYP2D6 a1xN, CYP2D6 a2xN
1B CYP4F2 rs2108622:C>T Dosage Warfarin Heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism +
1B EGFR rs121434568:T>Ga Efficacy Gefitinib, erlotinib Carcinoma, non-small-cell lung − EGFR
1B G6PD rs1050828:C>T Toxicity/ADR Chlorproguanil, dapsone Malaria +
1B IFNL3 rs8099917:T>G Efficacy Interferons, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir Chronic hepatitis C − IFNL3
1B MT-RNR1 rs267606617:A>G Toxicity/ADR Aminoglycoside antibacterials Ototoxicity − MT-RNR1
1B NUDT15 rs116855232:C>T Dosage, toxicity/ADR Azathioprine, mercaptopurine Inflammatory bowel diseases, precursor cell lymphoblastic leukaemia-lymphoma +
1B VKORC1 rs9923231:C>A, rs9923231:C>G, rs9923231:C>T Dosage Acenocoumarol, phenprocoumon Arteriosclerosis, heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, pulmonary embolism, stroke, thromboembolism, venous thromboembolism, venous thrombosis − VKORC1
rs7294:C>T Dosage Warfarin Arteriosclerosis, heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, pulmonary embolism, stroke, thromboembolism, venous thromboembolism, venous thrombosis − VKORC1
rs9934438:G>A Dosage Warfarin Arteriosclerosis, heart diseases, haemorrhage, intracranial haemorrhages, myocardial infarction, peripheral vascular diseases, pulmonary embolism, stroke, thromboembolism, venous thromboembolism, venous thrombosis − VKORC1
1B XPC rs2228001:G>T Toxicity/ADR Cisplatin Neoplasms, osteosarcoma, urinary bladder neoplasms +

ADR adverse drug reactions, PK Pharmacokinetics

aSomatic variant

Medications possibly used in patients with neurological disorders are written in bold