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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