Table 1 Basic characteristics of the selected VIP variants from the PharmGKB database
From: Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China
SNP ID | Genes | Position | Chr | Categories | Alleles | Amino Acid Translation | Mongol | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Family | Phase | A | B | AA | AB | BB | |||||
rs1801131 | MTHFR | 11854476 | 1 | Methylenetetrahydrofolate reductase family | Phase I | C | A | Glu429Ala | 8 | 34 | 58 |
rs1801133 | MTHFR | 11856378 | 1 | Phase I | T | C | Ala222Val | 9 | 39 | 52 | |
rs890293 | CYP2J2 | 60392494 | 1 | Cytochrome P450 superfamily | Phase I | G | T | 0 | 95 | 5 | |
rs3918290 | DPYD | 97915614 | 1 | - | PhaseI | G | A | 100 | 0 | 0 | |
rs6025 | F5 | 169519049 | 1 | - | Others | G | A | Arg534Gln | 99 | 1 | 0 |
rs20417 | PTGS2 | 186650321 | 1 | - | Phase I | G | C | 97 | 0 | 3 | |
rs689466 | PTGS2 | 186650751 | 1 | - | Phase I | A | G | 45 | 45 | 10 | |
rs4124874 | UGT1A1 | 234665659 | 2 | UDP-glucuronosyltransferase family | Phase II | C | A | 10 | 46 | 44 | |
rs10929302 | UGT1A1 | 234665782 | 2 | Phase II | G | A | 65 | 30 | 5 | ||
rs4148323 | UGT1A1 | 234669144 | 2 | Phase II | A | G | Gly71Arg | 7 | 34 | 59 | |
rs7626962 | SCN5A | 38620907 | 3 | Sodium channel gene family | Others | G | T | Ser1103Tyr | 100 | 0 | 0 |
rs1805124 | SCN5A | 38645420 | 3 | Others | G | A | Pro1090Leu | 1 | 25 | 74 | |
rs6791924 | SCN5A | 38674699 | 3 | Others | G | A | Arg34Cys | 100 | 0 | 0 | |
rs3814055 | NR1I2 | 119500035 | 3 | Nuclear receptor family | Others | C | T | 46 | 47 | 7 | |
rs2046934 | P2RY12 | 151057642 | 3 | G-protein coupled receptor family | Others | T | C | 63 | 34 | 3 | |
rs1065776 | P2RY1 | 152553628 | 3 | Others | T | C | Ala19Ala | 0 | 7 | 93 | |
rs701265 | P2RY1 | 152554357 | 3 | Others | G | A | Val262Val | 9 | 52 | 39 | |
rs975833 | ADH1A | 100201739 | 4 | Alcohol dehydrogenase family | Phase I | G | C | 33 | 52 | 15 | |
rs2066702 | ADH1B | 100229017 | 4 | Phase I | C | T | Arg370Cys | 100 | 0 | 0 | |
rs1229984 | ADH1B | 100239319 | 4 | Phase I | G | A | His48Arg | 45 | 44 | 11 | |
rs698 | ADH1C | 100260789 | 4 | Phase I | A | G | Ile350Val | 67 | 25 | 7 | |
rs17244841 | HMGCR | 74642855 | 5 | - | Phase I | A | T | 99 | 1 | 0 | |
rs3846662 | HMGCR | 74651084 | 5 | - | Phase I | T | C | 30 | 52 | 18 | |
rs17238540 | HMGCR | 74655498 | 5 | - | Phase I | T | G | 100 | 0 | 0 | |
rs1042713 | ADRB2 | 148206440 | 5 | Adrenergic receptors family | Phase I | G | A | Arg16Gly | 26 | 53 | 21 |
rs1042714 | ADRB2 | 148206473 | 5 | Phase I | G | C | Gln27Glu | 6 | 42 | 52 | |
rs1800888 | ADRB2 | 148206885 | 5 | Phase I | C | T | Thr164Ile | 99 | 0 | 0 | |
rs1142345 | TPMT | 18130918 | 6 | Methyltransferase superfamily | Phase II | G | A | Tyr240Cys | 0 | 2 | 98 |
rs1800460 | TPMT | 18139228 | 6 | Phase II | A | G | Ala154Thr | 0 | 1 | 99 | |
rs2066853 | AHR | 17379110 | 7 | - | Others | G | A | Arg554Lys | 35 | 48 | 16 |
rs1045642 | ABCB1 | 87138645 | 7 | ATP-binding cassette (ABC) transporters superfamily | Others | T | C | Ile1145Ile | 17 | 47 | 36 |
rs2032582 | ABCB1 | 87160618 | 7 | Others | G | T | Ser893Ala | 25 | 35 | 15 | |
rs2032582 | ABCB1 | 87160618 | 7 | Others | G | A | Ser893Thr | 25 | 10 | 2 | |
rs2032582 | ABCB1 | 87160618 | 7 | Others | T | A | 15 | 13 | 2 | ||
rs1128503 | ABCB1 | 87179601 | 7 | Others | T | C | Gly412Gly | 37 | 48 | 13 | |
rs10264272 | CYP3A5 | 99262835 | 7 | Cytochrome P450 superfamily | Phase I | C | T | Lys208Lys | 100 | 0 | 0 |
rs776746 | CYP3A5 | 99270539 | 7 | Phase I | G | A | 79 | 20 | 1 | ||
rs4986913 | CYP3A4 | 99358459 | 7 | Phase I | C | T | Pro467Ser | 100 | 0 | 0 | |
rs4986910 | CYP3A4 | 99358524 | 7 | Phase I | T | C | Met445Thr | 100 | 0 | 0 | |
rs4986909 | CYP3A4 | 99359670 | 7 | Phase I | C | T | Pro416Leu | 100 | 0 | 0 | |
rs12721634 | CYP3A4 | 99381661 | 7 | Phase I | T | C | Leu15Pro | 100 | 0 | 0 | |
rs2740574 | CYP3A4 | 99382096 | 7 | Phase I | A | G | 97 | 2 | 1 | ||
rs3815459 | KCNH2 | 150644394 | 7 | Eag family | Others | A | G | 40 | 48 | 12 | |
rs36210421 | KCNH2 | 150644428 | 7 | Others | G | T | Arg707Leu | 100 | 0 | 0 | |
rs12720441 | KCNH2 | 150647304 | 7 | Others | C | T | Arg444Trp | 100 | 0 | 0 | |
rs3807375 | KCNH2 | 150667210 | 7 | Others | A | G | 56 | 37 | 7 | ||
rs4986893 | CYP2C19 | 96540410 | 10 | Cytochrome P450 superfamily | Phase I | G | A | Trp212null | 88 | 11 | 1 |
rs4244285 | CYP2C19 | 96541616 | 10 | Phase I | G | A | Pro227Pro | 69 | 26 | 5 | |
rs1799853 | CYP2C9 | 96702047 | 10 | Phase I | C | T | Arg144Cys | 100 | 0 | 0 | |
rs1801252 | ADRB1 | 115804036 | 10 | Adrenergic receptors family | Phase I | G | A | Ser49Gly | 5 | 26 | 69 |
rs1801253 | ADRB1 | 115805056 | 10 | Phase I | C | G | Gly389Arg | 69 | 26 | 4 | |
rs5219 | KCNJ11 | 17409572 | 11 | Inward-rectifier potassium channel family | Others | C | T | Lys23Glu | 39 | 54 | 7 |
rs1695 | GSTP1 | 67352689 | 11 | Glutathione S-transferase family | Phase II | A | G | Ile105Val | 52 | 46 | 2 |
rs1138272 | GSTP1 | 67353579 | 11 | Phase II | T | C | Ala114Val | 0 | 3 | 97 | |
rs1800497 | ANKK1 | 113270828 | 11 | Ser/Thr protein kinase family | Phase I | T | C | Glu713Lys | 7 | 40 | 51 |
rs6277 | DRD2 | 113283459 | 11 | G-protein coupled receptor family | Others | C | T | Pro290Pro | 79 | 19 | 2 |
rs4149056 | SLCO1B1 | 21331549 | 12 | Solute carrier family | Others | T | C | Val174Ala | 71 | 28 | 1 |
rs7975232 | VDR | 48238837 | 12 | Nuclear receptor family | Others | C | A | 42 | 51 | 7 | |
rs1544410 | VDR | 48239835 | 12 | Others | G | A | 72 | 26 | 2 | ||
rs2239185 | VDR | 48244559 | 12 | Others | T | C | 7 | 51 | 42 | ||
rs1540339 | VDR | 48257326 | 12 | Others | G | A | 18 | 49 | 33 | ||
rs2239179 | VDR | 48257766 | 12 | Others | A | G | 46 | 43 | 11 | ||
rs3782905 | VDR | 48266167 | 12 | Others | C | G | 62 | 35 | 2 | ||
rs2228570 | VDR | 48272895 | 12 | Others | T | C | Met51Arg, Met51Lys, Met51Thr | 9 | 51 | 40 | |
rs10735810 | VDR | 48272895 | 12 | Others | C | T | 38 | 40 | 9 | ||
rs11568820 | VDR | 48302545 | 12 | Others | G | A | 55 | 36 | 7 | ||
rs1801030 | SULT1A1 | 28617485 | 16 | Sulfotransferase family | Phase II | A | G | Val223Met | 100 | 0 | 0 |
rs3760091 | SULT1A1 | 28620800 | 16 | Phase II | C | G | 32 | 43 | 18 | ||
rs7294 | VKORC1 | 31102321 | 16 | - | Phase I | G | A | 67 | 32 | 1 | |
rs9934438 | VKORC1 | 31104878 | 16 | - | Phase I | G | A | 2 | 35 | 63 | |
rs28399454 | CYP2A6 | 41351267 | 19 | Cytochrome P450 superfamily | Phase I | G | A | Val365Met | 100 | 0 | 0 |
rs28399444 | CYP2A6 | 41354190 | 19 | Phase I | AA | - | Glu197Ser, Glu197Arg | 100 | 0 | 0 | |
rs1801272 | CYP2A6 | 41354533 | 19 | Phase I | T | A | Leu160His | 95 | 3 | 0 | |
rs28399433 | CYP2A6 | 41356379 | 19 | Phase I | G | T | 1 | 20 | 79 | ||
rs3745274 | CYP2B6 | 41512841 | 19 | Phase I | G | T | Gln172His | 65 | 29 | 6 | |
rs28399499 | CYP2B6 | 41518221 | 19 | Phase I | T | C | Ile328Thr | 99 | 1 | 0 | |
rs3211371 | CYP2B6 | 41522715 | 19 | Phase I | C | T | Arg487Cys | 0 | 100 | 0 | |
rs12659 | SLC19A1 | 46951556 | 21 | Solute carrier family | Others | C | T | Pro192Pro | 19 | 51 | 30 |
rs1051266 | SLC19A1 | 46957794 | 21 | Others | G | A | His27Arg | 18 | 50 | 31 | |
rs1131596 | SLC19A1 | 46957916 | 21 | Others | T | C | 19 | 38 | 24 | ||
rs4680 | COMT | 19951271 | 22 | - | Phase II | A | G | Val158Met | 10 | 38 | 52 |
rs59421388 | CYP2D6 | 42523610 | 22 | Cytochrome P450 superfamily | Phase I | C | T | Val287Met | 100 | 0 | 0 |
rs28371725 | CYP2D6 | 42523805 | 22 | Phase I | G | A | 86 | 13 | 0 | ||
rs16947 | CYP2D6 | 42523943 | 22 | Phase I | G | A | 44 | 35 | 0 | ||
rs61736512 | CYP2D6 | 42525134 | 22 | Phase I | C | A/G/T | Val136Met | 100 | 0 | 0 | |
rs28371706 | CYP2D6 | 42525772 | 22 | Phase I | C | T | Thr107Ile | 100 | 0 | 0 | |
rs5030656 | CYP2D6 | 42524176:42524176 | 22 | Phase I | AAG | - | 100 | 0 | 0 | ||