Table 4 21 missense variants mapping to drug-binding domains and of pharmacogenomic relevance (efficacy, dosage toxicity).
Chr:Position | dnSNP ID; variant change: amino acid change | Gene | KWT_RAF/1KGP_ RAF/GME_RAF; Ratio KWT-1KGP/KWT-GME RAFs | Ref_risk | Affecting Allele(s) for the drug response | Drug response to which is impacted | Disease/Condition |
|---|---|---|---|---|---|---|---|
4:3006043 | rs1024323; c.425C > T: Ala142Val | GRK4 | 0.3718/0.3732/0.3887; 0.9962/0.9565 | C_T | T | atenolol | Hypertension |
CC | metoprolol | Hypertensive Nephrosclerosis | |||||
CC | metoprolol | Hypertensive Nephrosclerosis | |||||
17:7579472 | rs1042522; c.215C > G: Pro72Arg | TP53 | 0.4425/0.5429/.; 0.8150/. | G_C | CG + GG | cisplatin; paclitaxel | Stomach neoplasms |
5:148206440 | rs1042713; c.46A > G: Arg16Gly | ADRB2 | 0.5513/0.5244/0.5645; 1.0513/0.98 | G_A | AA | terbutaline | Asthma |
AA | salmeterol | Asthma | |||||
A | Beta Blocking Agents | Heart Failure | |||||
G | hydrochlorothiazide | Hypertension | |||||
A | indacaterol | Chronic obstructive pulmonary disease | |||||
5:148206473 | rs1042714; c.79C > G: Gln27Glu | ADRB2 | 0.2246/ 0.2053/0.2412; 1.094/0.9312 | G_C | GG | terbutaline | Asthma |
G | Beta Blocking Agents | Heart Failure | |||||
C | indacaterol | Chronic obstructive pulmonary disease | |||||
15:75012985 | rs1048943; c.1384A > G: Ile462Val | CYP1A1 | 0.0653/0.1334/0.0619; 0.4895/1.0542 | T_C | C | warfarin | warfarin |
10:96798749 | rs10509681; c.1196A > G: Lys399Arg | CYP2C8 | 0.1198/0.0457/0.1047; 2.6197/1.1438 | T_C | C | rosiglitazone | Diabetes |
C | repaglinide | Diabetes | |||||
C | paclitaxel | Cancer(chemotherapy) | |||||
7:75615006 | rs1057868; c.1508C > T: Ala503Val | POR | 0.2609/0.2861/0.2808; 0.9120/0.9292 | C_T | CT + TT | tacrolimus | Kidney transplantation |
17:37879588 | rs1136201; c.1963A > G: Ile655Val | ERBB2 | 0.0975/0.1214/0.1255; 0.8032/0.7770 | A_G | G | trastuzumab | Breast cancer |
10:96827030 | rs11572080; c.416G > T: Arg139Lys | CYP2C8 | 0.1237/0.0457/0.1013; 2.7054/1.2211 | C_T | T | paclitaxel | Cancer(chemotherapy) |
T | rosiglitazone | Diabetes | |||||
T | repaglinide | Diabetes | |||||
T | paclitaxel | Neoplasms | |||||
2:21263900 | rs1367117; c.293C > T: Thr98Ile | APOB | 0.1448/0.1693/0.1727; 0.8553/0.8386 | G_A | AG | Irbesartan | Hypertension |
GG | Irbesartan | Hypertension | |||||
11:113270828 | rs1800497; c.2137G > A: Glu713Lys | ANKK1 | 0.1713/0.3257/0.1908; 0.5259/0.8975 | G_A | A | risperidone | Schizophrenia |
A | lithium | Bipolar disorder | |||||
A | antipsychotics | Schizophrenia | |||||
A | Drugs used in nicotine dependence | Tobacco use disorder | |||||
AA + AG | aripiprazole | Schizophrenia | |||||
AA | methadone | Heroin dependence | |||||
5:148206885 | rs1800888; c.491C > T: Thr164Ile | ADRB2 | 0.0121/0.0040/0.0156; 3.0325/0.7759 | C_T | CT | terbutaline | Asthma |
T | Beta Blocking Agents | Heart Failure | |||||
3:124456742 | rs1801019; c.638G > C: Gly213Ala | UMPS | 0.1632/0.1859/0.1767; 0.8780/0.9236 | G_C | C | fluorouracil | Colonic neoplasms |
4:3039150 | rs1801058; c.1457T > C: Val486Ala | GRK4 | 0.2293/0.3067/0.292; 0.7476/0.7079 | T_C | T | atenolol | Hypertension |
CT | metoprolol | Hypertensive Nephrosclerosis | |||||
CT | metoprolol | Hypertensive Nephrosclerosis | |||||
1:237048500 | rs1805087; c.2756A > G: Asp919Gly | MTR | 0.2603/0.2183/0.2021; 1.1929/1.2881 | A_G | A | folic acid; hydroxychloroquine; methotrexate; sulfasalazine | Rheumatoid Arthritis |
7:55229255 | rs2227983; c.1562G > A: Arg521Lys | EGFR | 0.2759/0.2921/0.2784; 0.9443/0.9907 | G_A | A | cetuximab | Colorectal neoplasms |
22:42525772 | rs28371706; c.320C > T: Thr107Ile | CYP2D6 | 0.0446/0.0591/.; 0.7553/. | G_A | A | codeine | Sickle Cell Anemia |
|  | AA + AG | nevirapine | HIV | ||||
4:2990499 | rs2960306; c.194G > T: Arg65Leu | GRK4 | 0.3711/0.3125/0.3620; 1.1875/1.0250 | G_T | T | atenolol | Hypertension |
GT + TT | metoprolol | Hypertensive Nephrosclerosis | |||||
TT | metoprolol | Hypertensive Nephrosclerosis | |||||
19:41522715 | rs3211371; c.1459C > T: Arg487Cys | CYP2B6 | 0.0423/0.0535/0.0624; 0.7896/0.6767 | C_T | TT | nevirapine | HIV |
TT | methadone | Heroin dependence | |||||
19:41512841 | rs3745274; c.516G > T: Gln172His | CYP2B6 | 0.2759/0.3157/0.3026; 0.8738/0.9116 | G_T | TT | efavirenz | HIV |
T | nevirapine | HIV | |||||
TT | methadone | Heroin dependence | |||||
GT + TT | nevirapine | HIV | |||||
T | nevirapine | HIV | |||||
GT | nevirapine | HIV | |||||
TT | nevirapine | HIV | |||||
TT | nevirapine | HIV | |||||
GT | nevirapine | HIV | |||||
TT | nevirapine | HIV | |||||
1:230845794 | rs699; c.803T > C: Met268Thr | AGT | 0.583/0.7051/0.5534; 0.8268/1.0535 | A_G | G | Antihypertensives | Hypertension |
