Table 2.
Reported SNPs with pharmaco-clinical significance and their phenotypic association
| S. No. | Gene name | Variation ID | Affected pharmacology and major phenotypic changes# |
|---|---|---|---|
| A | Indian Population Specific SNP Variants | ||
| 1 | ABCB1 | rs2235040 | - Toxicity |
| 2 | ABCC2 | rs717620 | - Metabolism/PK; Dubin-Johnson syndrome |
| 3 | ABCC2 | rs3740065 | - Toxicity; Metabolism/PK; Leukemia, B-Cell, Acute |
| 4 | ANKK1 | rs1800497 | - Toxicity; Alcoholism; Substance-Related Disorders |
| 5 | CES1 | rs2307240 | - Efficacy; Acute coronary syndrome |
| 6 | CYP1A1 | rs1048943 | - Efficacy; Breast Neoplasms |
| 7 | CYP2C8 | rs11572080 | - Toxicity; CYP2C8 Haplotype Polymorphism |
| 8 | CYP2D6 | rs17002852 | - Tramadol response |
| 9 | HNF4A | rs11086926 | - Familial hyperinsulinism, Maturity-onset diabetes of the young, type 1 |
| 10 | HNF4A | rs1800961 | - All Highly Penetrant, Familial hyperinsulinism, Maturity-onset diabetes of the young, type 1, Monogenic diabetes |
| 11 | MTHFR | rs1801133 | - Drug Toxicity; hematotoxicity; Leukopenia; mucositis; Neoplasms; Neutropenia; Osteosarcoma; Precursor Cell Lymphoblastic Leukemia-Lymphoma; primary central nervous system lymphoma; Thrombocytopenia; Toxic liver disease |
| 12 | MTHFR | rs2066470 | - Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to MTHFR deficiency |
| 13 | MTHFR | rs1801131 | - Efficacy; Neoplasms |
| 14 | MTHFR | rs2274976 | - Homocystinuria |
| 15 | NR1I3 | rs2502815 | - Toxicity; Anemia;Nasopharyngeal Neoplasms |
| 16 | TPMT | rs1800460 | - Toxicity; Neoplasms |
| 17 | VDR | rs1544410 | - Efficacy; Osteoporosis |
| 18 | VDR | rs4516035 | - Metabolism/PK |
| 19 | CYP2D6 | rs1065852 | - Toxicity; Opioid-Related Disorders |
| 20 | CYP3A4 | rs2740574 | - Toxicity; Breast Neoplasms |
| 21 | CYP3A4 | rs4646437 | - Metabolism/PK; Kidney Transplantation; liver transplantation; Proteinuria |
| 22 | IL10 | rs1800872 | - Efficacy; Kidney Transplantation |
| 23 | NR1I3 | rs2501873 | - Dosage; Inflammatory bowel disease |
| 24 | VDR | rs739837 | - Basal cell carcinoma |
| 25 | CYP3A4 | rs3735451 | - Toxicity; Vitamin D-dependent rickets type II with alopecia |
| B. | Global SNP Variants | ||
| 1 | AGTR1 | rs5182 | - Efficacy; Coronary Artery Disease |
| 2 | ABCB1 | rs10267099 | - Toxicity; Breast Neoplasms; Neutropenia |
| 3 | AGTR1 | rs5186 | - Toxicity / Efficacy; Drug Hypersensitivity; Hypertension; Hypertrophy, Left Ventricular; Renal tubular dysgenesis, |
| 4 | CTLA4 | rs4553808 | - Toxicity/PK; Kidney Transplantation |
| 5 | CYP1A2 | rs762551 | - Toxicity/Dosage; Stevens-Johnson Syndrome; Arthritis, Rheumatoid/ Depressive Disorder, Major |
| 6 | CYP1A2 | rs2069526 | - Toxicity; Depressive Disorder, Major |
| 7 | CYP2B6 | rs8192709 | - Toxicity; Carcinoma, Non-Small-Cell Lung, Cystitis;Transplantation |
| 8 | CYP2B6 | rs4803419 | - Metabolism/PK; HIV Infections, efavirenz response - Metabolism/PK |
| 9 | CYP2C19 | rs4986893 | - Toxicity; Cough, Maculopapular Exanthema;Tuberculosis |
| 10 | CYP2C19 | rs12768009 | - Metabolism/PK; HIV Infections |
| 11 | CYP2C8 | rs10509681 | - Toxicity; CYP2C8 HAPLOTYPE POLYMORPHISM, rosiglitazone response - Metabolism/PK |
| 12 | EPHX1 | rs1051740 |
- Metabolism/PK; Kidney Transplantation, Epilepsy; Ovarian Neoplasms - carbamazepine response, Cystic fibrosis |
| 13 | IL18 | rs5744247 | - Efficacy; Breast Neoplasms;Colorectal Neoplasms |
| 14 | NAT2 | rs1041983 | - Toxic liver disease; Tuberculosis; Drug interaction with drug; Drug Toxicity; Tuberculosis |
| 15 | NAT2 | rs1801280 | - Other/Toxicity; Tobacco Use Disorder; Ovarian Neoplasms, ACETYLATION |
| 16 | NAT2 | rs1208 | - Toxicity; Drug interaction with drug;Drug Toxicity; Acetylation, Slow |
| 17 | NAT2 | rs1799930 | - Toxicity; Drug interaction with drug; Drug Toxicity; ethambutol, isoniazid, pyrazinamide, and rifampin response |
| 18 | OPRM1 | rs1799971 | - Efficacy/Toxicity; Tobacco Use Disorder; Erectile Dysfunction; Sexual Dysfunctions, |
| 19 | PPARA | rs4823613 | - Efficacy; Organ Transplantation |
| 20 | UGT1A8 | rs10929303 | - Toxicity; Liver Failure, Acute; HIV Infections; nephrolithiasis; Lucey-Driscoll syndrome, Gilbert syndrome, Crigler-Najjar syndrome |
| 21 | UGT1A8 | rs6742078 | - Bilirubin, Serum Level of, Quantitative Trait Locus 1, Gilbert syndrome |
| 22 | CYP2D6 | rs16947 | - Toxicity; Bradycardia; Debrisoquine, ultrarapid metabolism, Tramadol response, Deutetrabenazine response |
| 23 | CYP3A4 | rs2242480 | - Efficacy/Toxicity; Coronary Artery Disease; Heroin Dependence |
| 24 | DRD3 | rs167770 | - Efficacy; Anxiety Disorders |
| 25 | EPHX1 | rs2234922 | - Toxicity/Dosage; Congenital Abnormalities; Craniofacial Abnormalities/ Carcinoma, Non-Small-Cell Lung/ Epilepsy; carbamazepine response |
| 26 | IL10 | rs1800871 | - Dosage; liver/Kidney transplantation |
| 27 | NR1I3 | rs3003596 | - Metabolism/PK; HIV Infections |
| 28 | CTLA4 | rs3087243 | - Toxicity; Psoriasis Autoimmune lymphoproliferative syndrome type V, chronic fatigue syndrome with infection-triggered onset |
#Source-ClinVar database and PharmGKB database