Table 1. List of drug-response related SNPs with MAF ≥0.5.
| SNP ID | Global major allele | Global minor allele | Associated drug | Drug used for | Population# | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALL | AFR | AMR | EAS | EUR | SAS | |||||||||||||||||||||||||||||||
| All pops |
AFR | YRI | LWK | GWD | MSL | ESN | ASW | ACB | AMR | MXL | PUR | CLM | PEL | EAS | CHB | JPT | CHS | CDX | KHV | EUR | CEU | TSI | FIN | GBR | IBS | SAS | GIH | PJL | BEB | STU | ITU | |||||
| rs1801133 | G | A | Cyclophosphamide, carboplatin, methotrexate | Precursor cell lymphoblastic leukemia-lymphoma, carcinoma, non-small-cell lung cancer, neoplasms | 0.25 | 0.54 | ||||||||||||||||||||||||||||||
| rs2297480 | T | G | Bisphosphonates | Postmenopausal osteoporosis | 0.37 | 0.69 | 0.76 | 0.74 | 0.75 | 0.66 | 0.54 | |||||||||||||||||||||||||
| rs1801274 | A | G | Trastuzumab | Breast neoplasms | 0.44 | 0.53 | 0.52 | 0.61 | 0.60 | 0.51 | 0.51 | 0.54 | 0.61 | 0.53 | ||||||||||||||||||||||
| rs1051740 | T | C | Carbamazepine | Epilepsy | 0.31 | 0.54 | ||||||||||||||||||||||||||||||
| rs1056836 | G | C | - | Congenital glaucoma | 0.39 | 0.82 | 0.88 | 0.79 | 0.82 | 0.87 | 0.84 | 0.70 | 0.79 | |||||||||||||||||||||||
| rs6166 | T | C | Follice-stimulating hormone | Ovarian hyperstimulation syndrome, ovarian response to FSH stimulation, ovarian dysgenesis | 0.41 | 0.50 | 0.51 | |||||||||||||||||||||||||||||
| rs6165 | C | T | Follice-stimulating hormone | Ovarian hyper-stimulation syndrome, ovarian response to FSH stimulation, ovarian dysgenesis | 0.49 | 0.58 | 0.67 | 0.56 | 0.66 | 0.66 | 0.67 | 0.64 | 0.67 | 0.67 | 0.65 | 0.55 | 0.59 | 0.53 | 0.50 | 0.56 | 0.57 | 0.54 | 0.52 | 0.63 | 0.55 | 0.54 | ||||||||||
| rs3812718 | C | T | Carbamazepine, phenytoin, anti-epileptics | Epilepsy | 0.49 | 0.56 | 0.60 | 0.51 | 0.62 | 0.68 | 0.70 | 0.54 | 0.53 | 0.53 | 0.57 | 0.61 | 0.58 | 0.58 | 0.58 | 0.60 | 0.59 | 0.55 | ||||||||||||||
| rs2952768 | T | C | Fentanyl, morphine, opioids | Pain | 0.39 | 0.54 | 0.51 | 0.51 | 0.52 | 0.57 | ||||||||||||||||||||||||||
| rs4673993 | T | C | Methotrexate | Rheumatoid arthritis | 0.29 | 0.56 | ||||||||||||||||||||||||||||||
| rs887829 | C | T | Atazanavir | Human immunodeficiency virus infection | 0.35 | 0.52 | 0.53 | |||||||||||||||||||||||||||||
| rs4961 | G | T | Furosemide, spironolactone | Liver cirrhosis | 0.21 | 0.54 | 0.56 | |||||||||||||||||||||||||||||
| rs145489027 | G | A | ACE inhibitor | 0.30 | 0.55 | 0.51 | ||||||||||||||||||||||||||||||
| rs1902023 | C | A | Oxazepam, lorazepam | Anxiety | 0.45 | 0.51 | 0.55 | 0.51 | 0.52 | 0.54 | 0.54 | 0.55 | 0.64 | 0.55 | ||||||||||||||||||||||
| rs4693075 | C | G | Atorvastatin, HMG CoA reductase inhibitors, rosuvastatin | Muscular diseases | 0.34 | 0.53 | 0.54 | |||||||||||||||||||||||||||||
| rs4444903 | G | A | Cetuximab | Colorectal neoplasms, rectal neoplasms | 0.40 | 0.61 | 0.60 | 0.62 | 0.63 | 0.59 | 0.61 | 0.51 | 0.52 | |||||||||||||||||||||||
| rs1801394 | A | G | Methotrexate | Burkitt lymphoma, T-cell precursor cell lymphoblastic leukemia-lymphoma, lymphoma, toxic liver disease, gastrointestinal stroma tumor, disorders of intracellular cobalamin metabolism | 0.36 | 0.52 | 0.56 | 0.62 | 0.57 | 0.52 | 0.51 | 0.54 | 0.51 | 0.59 | ||||||||||||||||||||||
| rs6295 | G | C | Paroxetine | Depressive disorder, panic disorder 1, major mood disorders | 0.45 | 0.57 | 0.59 | 0.61 | 0.56 | 0.55 | 0.54 | 0.57 | 0.57 | 0.58 | 0.52 | 0.54 | 0.51 | 0.59 | 0.61 | 0.53 | ||||||||||||||||
| rs17244841 | A | T | HMG CoA reductase inhibitors, pravastatin, simvastatin | Coronary artery disease, hyperlipidemias, coronary disease, myocardial infarction, hypercholesterolemia | 0.04 | |||||||||||||||||||||||||||||||
| rs1042713 | G | A | Salbutamol, salmeterol | Asthma | 0.48 | 0.52 | 0.53 | 0.53 | 0.52 | 0.52 | 0.55 | 0.51 | 0.52 | 0.55 | 0.55 | 0.61 | 0.58 | 0.57 | ||||||||||||||||||
| rs20455 | G | A | Pravastatin, atorvastatin | Coronary disease, myocardial infarction, hyperlipidemias | 0.46 | 0.67 | 0.68 | 0.59 | 0.62 | 0.79 | 0.52 | 0.51 | 0.64 | 0.63 | 0.65 | 0.66 | 0.66 | 0.59 | 0.54 | 0.54 | 0.55 | 0.56 | 0.52 | 0.52 | ||||||||||||
| rs1799971 | A | G | Ethanol, alfentanil, fentanyl, heroin, morphine, naltrexone, opioids, tramadol, buprenorphine, drugs used in opioid dependence | Alcohol dependence, heroin dependence, opioid-related disorders, pain | 0.22 | |||||||||||||||||||||||||||||||
| rs4880 | A | G | Cyclophosphamide | Breast neoplasms | 0.41 | 0.58 | 0.65 | 0.54 | 0.68 | 0.52 | 0.51 | 0.51 | 0.58 | |||||||||||||||||||||||
| rs37973 | A | G | Glucocorticoids | 0.40 | 0.51 | 0.51 | 0.52 | 0.51 | 0.53 | 0.59 | 0.52 | |||||||||||||||||||||||||
| rs7793837 | A | T | Salbutamol, selective beta-2-adrenoreceptor agonists | Drug reported used for: Asthma, Drug reported used for: Asthma | 0.42 | 0.86 | 0.91 | 0.84 | 0.87 | 0.86 | 0.91 | 0.76 | 0.81 | |||||||||||||||||||||||
| rs1045642 | G | A | Nevirapine, methotrexate, fentanyl, methadone, morphine, opioids, oxycodone, tramadol, digoxin | HIV Infections, toxic epidermal necrolysis, Burkitt lymphoma, precursor cell lymphoblastic leukemia-lymphoma, lymphoma, toxic liver disease, pain, heroin dependence | 0.40 | 0.52 | 0.57 | 0.58 | 0.53 | 0.58 | 0.57 | 0.51 | 0.61 | 0.59 | 0.59 | |||||||||||||||||||||
| rs776746 | C | T | Cyclosporine, tacrolimus, sirolimus | Organ transplantation, kidney transplantation, liver transplantation | 0.38 | 0.82 | 0.83 | 0.88 | 0.77 | 0.88 | 0.89 | 0.69 | 0.75 | |||||||||||||||||||||||
| rs2740574 | T | C | Condition: tacrolimus response—Dosage | Drug reported used for: Organ Transplantation | 0.23 | 0.77 | 0.76 | 0.83 | 0.79 | 0.84 | 0.77 | 0.67 | 0.66 | |||||||||||||||||||||||
| rs10246939 | C | T | Phenylthio-carbamide tasting | 0.48 | 0.52 | 0.54 | 0.51 | 0.58 | 0.51 | 0.53 | 0.54 | 0.54 | 0.57 | 0.62 | 0.58 | 0.50 | 0.64 | 0.58 | 0.59 | 0.67 | 0.70 | 0.66 | ||||||||||||||
| rs1726866 | G | A | Phenylthio-carbamide tasting | 0.43 | 0.54 | 0.57 | 0.62 | 0.58 | 0.64 | 0.58 | 0.59 | 0.67 | 0.70 | 0.66 | ||||||||||||||||||||||
| rs713598 | G | C | Phenylthio-carbamide tasting | 0.50 | 0.53 | 0.54 | 0.50 | 0.58 | 0.51 | 0.52 | 0.54 | 0.58 | 0.62 | 0.63 | 0.61 | 0.55 | 0.66 | 0.60 | 0.62 | 0.68 | 0.70 | 0.68 | ||||||||||||||
| rs6977820 | C | T | Antipsychotics | Metabolic syndrome X, schizophrenia, hyper-prolactinemia, tardive dyskinesia, weight gain, mental disorders | 0.42 | 0.83 | 0.88 | 0.83 | 0.84 | 0.85 | 0.90 | 0.68 | 0.74 | |||||||||||||||||||||||
| rs1041983 | C | T | Slow acetylator due to N-acetyl transferase enzyme variant, ethambutol, isoniazid, pyrazinamide, rifampin | Tuberculosis | 0.40 | 0.50 | 0.53 | 0.54 | 0.50 | |||||||||||||||||||||||||||
| rs6988229 | C | T | Salbutamol | Asthma | 0.24 | 0.60 | 0.62 | 0.57 | 0.62 | 0.59 | 0.59 | 0.57 | 0.60 | |||||||||||||||||||||||
| rs1695 | A | G | Platinum compounds, fluorouracil, oxaliplatin, cyclophosphamide, epirubicin, cisplatin | Neoplasms, ovarian neoplasms, colorectal neoplasms, breast neoplasms, osteosarcoma, urinary bladder neoplasms, medulloblastoma, brain neoplasms | 0.35 | 0.51 | 0.54 | 0.54 | 0.56 | 0.67 | ||||||||||||||||||||||||||
| rs716274 | A | G | Platinum compounds | Neoplasms, ovarian neoplasms | 0.44 | 0.50 | 0.54 | 0.51 | 0.59 | 0.58 | 0.63 | 0.59 | 0.57 | 0.60 | 0.51 | 0.50 | ||||||||||||||||||||
| rs11212617 | C | A | Metformin | Diabetes mellitus | 0.47 | 0.64 | 0.59 | 0.61 | 0.66 | 0.69 | 0.62 | 0.55 | 0.69 | 0.58 | 0.59 | 0.66 | 0.63 | 0.64 | 0.70 | 0.61 | 0.56 | 0.62 | ||||||||||||||
| rs1954787 | C | T | Antidepressants | Depression, depressive disorder, major depressive disorder, mood disorders | 0.50 | 0.90 | 0.93 | 0.86 | 0.95 | 0.94 | 0.90 | 0.83 | 0.83 | 0.52 | ||||||||||||||||||||||
| rs5443 | C | T | Sildenafil | Erectile dysfunction | 0.49 | 0.82 | 0.85 | 0.75 | 0.82 | 0.89 | 0.81 | 0.78 | 0.83 | 0.50 | 0.50 | 0.58 | 0.55 | |||||||||||||||||||
| rs11045879 | T | C | Methotrexate | Burkitt lymphoma, precursor cell lymphoblastic leukemia-lymphoma, toxic liver disease | 0.22 | 0.54 | ||||||||||||||||||||||||||||||
| rs7997012 | G | A | Antidepressants, citalopram, selective serotonin reuptake inhibitors | Depression, depressive disorder, major depressive disorder | 0.27 | 0.53 | 0.52 | |||||||||||||||||||||||||||||
| rs1719247 | T | C | HMG CoA reductase inhibitors, simvastatin | Muscular diseases, myopathy | 0.41 | 0.60 | 0.53 | 0.73 | 0.80 | 0.71 | 0.67 | 0.74 | 0.73 | 0.55 | 0.57 | 0.61 | 0.51 | 0.51 | 0.57 | |||||||||||||||||
| rs1346268 | T | C | HMG CoA reductase inhibitors, simvastatin | Muscular diseases, myopathy | 0.45 | 0.52 | 0.61 | 0.79 | 0.81 | 0.85 | 0.88 | 0.82 | 0.80 | 0.68 | ||||||||||||||||||||||
| rs578776 | A | G | Nicotine | Tobacco use disorder | 0.45 | 0.53 | 0.72 | 0.75 | 0.69 | 0.70 | 0.71 | 0.74 | 0.51 | 0.52 | 0.53 | 0.57 | 0.53 | |||||||||||||||||||
| rs7294 | C | T | Warfarin, acenocoumarol, phenprocoumon, vitamin K-dependent clotting factors | Heart diseases, atrial fibrillation, arteriosclerosis, hemorrhage, intracranial hemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism, pulmonary embolism, stroke | 0.42 | 0.51 | 0.57 | 0.76 | 0.67 | 0.69 | 0.79 | 0.82 | 0.83 | |||||||||||||||||||||||
| rs2359612 | G | A | Warfarin | Heart diseases, atrial fibrillation, arteriosclerosis, hemorrhage, intracranial hemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism, pulmonary embolism, stroke | 0.39 | 0.89 | 0.96 | 0.90 | 0.89 | 0.82 | 0.84 | |||||||||||||||||||||||||
| rs8050894 | C | G | Warfarin | Heart diseases, atrial fibrillation, arteriosclerosis, hemorrhage, intracranial hemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism, pulmonary embolism, stroke | 0.42 | 0.51 | 0.89 | 0.96 | 0.90 | 0.89 | 0.82 | 0.84 | 0.50 | |||||||||||||||||||||||
| rs9934438 | G | A | Warfarin, acenocoumarol, phenprocoumon, vitamin K-dependent clotting factors | Heart diseases, atrial fibrillation, arteriosclerosis, hemorrhage, intracranial hemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism, pulmonary embolism, stroke | 0.36 | 0.89 | 0.96 | 0.90 | 0.89 | 0.82 | 0.84 | |||||||||||||||||||||||||
| rs9923231 | C | T | Warfarin, acenocoumarol, phenprocoumon | Heart diseases, atrial fibrillation, arteriosclerosis, hemorrhage, intracranial hemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism, pulmonary embolism, stroke | 0.36 | 0.89 | 0.96 | 0.90 | 0.89 | 0.82 | 0.84 | |||||||||||||||||||||||||
| rs7196161 | A | G | Warfarin | Heart diseases, atrial fibrillation, arteriosclerosis, hemorrhage, intracranial hemorrhages, myocardial infarction, peripheral vascular diseases, thromboembolism, venous thromboembolism, pulmonary embolism, stroke | 0.47 | 0.61 | 0.51 | 0.89 | 0.96 | 0.90 | 0.89 | 0.82 | 0.84 | |||||||||||||||||||||||
| rs1532624 | C | A | HMG CoA reductase inhibitors | Coronary artery disease, hyperlipidemias | 0.31 | 0.54 | 0.52 | |||||||||||||||||||||||||||||
| rs2232228 | A | G | Anthracyclines and related substances | Heart failure, cardiomyopathies, neoplasms | 0.34 | 0.50 | 0.52 | 0.54 | 0.50 | 0.57 | 0.51 | |||||||||||||||||||||||||
| rs1042522 | C | G | Antineoplastic agents, cisplatin, cyclophosphamide, fluorouracil, paclitaxel | Breast neoplasms, neoplasms, neutropenia, ovarian neoplasms, stomach neoplasms, non-small-cell lung carcinoma, colorectal neoplasms, esophageal neoplasms, mesothelioma, pancreatic neoplasms, uterine cervical neoplasms | 0.46 | 0.67 | 0.64 | 0.75 | 0.71 | 0.61 | 0.68 | 0.60 | 0.66 | 0.52 | 0.54 | 0.54 | ||||||||||||||||||||
| rs4149601 | G | A | Diuretics, hydrochlorothiazide | Hypertension, essential hypertension | 0.28 | 0.50 | ||||||||||||||||||||||||||||||
| rs17782313 | T | C | Antipsychotics | Metabolic syndrome X, schizophrenia, hyper-prolactinemia, tardive dyskinesia, weight gain, mental Disorders | 0.24 | |||||||||||||||||||||||||||||||
| rs489693 | C | A | Amisulpride, aripiprazole, clozapine, haloperidol, olanzapine, paliperidone, quetiapine, risperidone, ziprasidone | Autism spectrum disorder, schizoaffective disorder, schizophrenia. Metabolic syndrome X, hyper-prolactinemia, tardive dyskinesia, weight gain | 0.35 | 0.50 | 0.53 | 0.53 | 0.58 | 0.50 | ||||||||||||||||||||||||||
| rs12979860 | C | T | Peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin, telaprevir, boceprevir | Hepatitis C, HIV infection, chronic Hepatitis C infection | 0.36 | 0.67 | 0.68 | 0.52 | 0.73 | 0.65 | 0.71 | 0.68 | 0.71 | |||||||||||||||||||||||
| rs3212986 | C | A | Cisplatin, platinum, platinum compounds | Neoplasms, osteosarcoma, urinary bladder neoplasms, ovarian neoplasms, medulloblastoma, brain neoplasms | 0.30 | 0.50 | ||||||||||||||||||||||||||||||
| rs11615 | G | A | Carboplatin, cisplatin, oxaliplatin, platinum compounds | Non-small-cell lung carcinoma, colorectal neoplasms, esophageal neoplasms, mesothelioma, ovarian neoplasms, pancreatic neoplasms, breast neoplasms, stomach neoplasms, cervical neoplasms | 0.33 | 0.62 | 0.64 | 0.54 | 0.63 | 0.68 | 0.63 | 0.52 | 0.51 | |||||||||||||||||||||||
| rs1056892 | G | A | Anthracyclines and related substances | Heart failure, cardiomyopathies, neoplasms | 0.43 | 0.51 | 0.51 | 0.53 | 0.52 | 0.57 | 0.53 | 0.53 | 0.54 | 0.59 | 0.53 | 0.52 | ||||||||||||||||||||
| rs4680 | G | A | Nicotine | Tobacco use disorder | 0.37 | 0.50 | 0.59 | 0.53 | 0.52 | |||||||||||||||||||||||||||
| rs2298383 | C | T | Caffeine | 0.40 | 0.52 | 0.65 | 0.50 | 0.51 | 0.52 | 0.56 | 0.59 | 0.59 | 0.58 | 0.57 | 0.63 | 0.57 | ||||||||||||||||||||
| rs1135840 | G | C | Debrisoquine | Ultra-rapid metabolism of debrisoquine | 0.40 | 0.52 | 0.60 | 0.51 | 0.61 | 0.50 | 0.53 | 0.57 | 0.50 | |||||||||||||||||||||||
| rs16947 | G | A | Debrisoquine | Ultra-rapid metabolism of debrisoquine | 0.36 | 0.55 | 0.56 | 0.65 | 0.54 | 0.61 | 0.57 | |||||||||||||||||||||||||
| rs1065852 | G | A | Debrisoquine | Ultra-rapid metabolism of debrisoquine | 0.24 | 0.57 | 0.60 | 0.61 | 0.63 | 0.66 | ||||||||||||||||||||||||||
# All populations (ALL); African super-population (AFR)- ((Yoruba in Ibadan, Nigeria (YRI); Luhya in Webuye, Kenya (LWK); Gambian in Western Divisions in the Gambia (GWD); Mende in Sierra Leone (MSL); Esan in Nigeria (ESN); Americans of African Ancestry in SW USA (ASW); African Caribbeans in Barbados (ACB)); Ad Mixed Americans (AMR)- ((Mexican Ancestry from Los Angeles USA (MXL); Puerto Ricans from Puerto Rico (PUR); Colombians from Medellin, Colombia (CLM); Peruvians from Lima, Peru (PEL)); East Asian (EAS)- ((Han Chinese in Beijing, China (CHB); Japanese in Tokyo, Japan (JPT); Southern Han Chinese (CHS); Chinese Dai in Xishuangbanna, China (CDX); Kinh in Ho Chi Minh City, Vietnam (KHV)); European (EUR)- ((Utah Residents (CEPH) with Northern and Western European Ancestry (CEU); Toscani in Italia (TSI); Finnish in Finland (FIN); British in England and Scotland (GBR); Iberian Population in Spain (IBS)); South Asian (SAS)- ((Gujarati Indian from Houston, Texas (GIH); Punjabi from Lahore, Pakistan (PJL); Bengali from Bangladesh (BEB); Sri Lankan Tamil from the UK (STU); Indian Telugu from the UK (ITU))