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Table 1 Basic characteristic of selected variants and allele frequencies in the Uygur population

From: Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China

SNP ID Genes Family Phase Allele A Allele B Allele A Allele B Amino Acid Translation Function
rs1801131 MTHFR methylenetetrahydrofolate reductase family Phase I C A 0.292 0.708 Glu429Ala Missense
rs1801133 MTHFR methylenetetrahydrofolate reductase family Phase I T C 0.349 0.651 Ala222Val Missense
rs890293 CYP2J2 cytochrome P450 superfamily Phase I G T 0.5 0.5 - 5′ Flanking
rs3918290 DPYD - PhaseI G A 1 0 - Donor
rs6025 F5 - Others G A 0.979 0.021 Arg534Gln Missense
rs20417 PTGS2 - Phase I G C 0.99 0.01 - 5′ Flanking
rs689466 PTGS2 - Phase I A G 0.721 0.279 - 5′ Flanking
rs4124874 UGT1A1 UDP-glucuronosyltransferase family Phase II C A 0.474 0.526 - 5′ Flanking
rs10929302 UGT1A1 UDP-glucuronosyltransferase family Phase II G A 0.763 0.237 - 5′ Flanking
rs4148323 UGT1A1 UDP-glucuronosyltransferase family Phase II A G 0.125 0.875 Gly71Arg Intronic
rs7626962 SCN5A sodium channel gene family Others G T 1 0 Ser1103Tyr Missense
rs1805124 SCN5A sodium channel gene family Others G A 0.193 0.807 Pro1090Leu Missense
rs6791924 SCN5A sodium channel gene family Others G A 1 0 Arg34Cys Missense
rs3814055 NR1I2 nuclear receptor family Others C T 0.641 0.359 - 5′ Flanking
rs2046934 P2RY12 G-protein coupled receptor family Others T C 0.839 0.161 - Intronic
rs1065776 P2RY1 G-protein coupled receptor family Others T C 0.073 0.927 Ala19Ala Synonymous
rs701265 P2RY1 G-protein coupled receptor family Others G A 0.219 0.781 Val262Val Synonymous
rs975833 ADH1A alcohol dehydrogenase family Phase I G C 0.625 0.375 - Intronic
rs2066702 ADH1B alcohol dehydrogenase family Phase I C T 1 0 Arg370Cys Missense
rs1229984 ADH1B alcohol dehydrogenase family Phase I G A 0.672 0.328 His48Arg Missense
rs698 ADH1C alcohol dehydrogenase family Phase I A G 0.805 0.195 Ile350Val Missense
rs17244841 HMGCR - Phase I A T 1 0 - Intronic
rs3846662 HMGCR - Phase I T C 0.474 0.526 - Intronic
rs17238540 HMGCR - Phase I T G 1 0 - Intronic
rs1042713 ADRB2 adrenergic receptors family Phase I G A 0.495 0.505 Arg16Gly Missense
rs1042714 ADRB2 adrenergic receptors family Phase I G C 0.153 0.847 Gln27Glu Missense
rs1800888 ADRB2 adrenergic receptors family Phase I C T 0.974 0.026 Thr164Ile Missense
rs1142345 TPMT methyltransferase superfamily Phase II G A 0.005 0.995 Tyr240Cys Missense
rs1800460 TPMT methyltransferase superfamily Phase II A G 0.005 0.995 Ala154Thr Missense
rs2066853 AHR - Others G A 0.784 0.216 Arg554Lys Missense
rs1045642 ABCB1 ATP-binding cassette (ABC) transporters superfamily Others T C 0.574 0.426 Ile1145Ile Synonymous
rs2032582 ABCB1 ATP-binding cassette (ABC) transporters superfamily Others G T 0.382 0.618 Ser893Ala Ser893Thr Missense
rs2032582 ABCB1 ATP-binding cassette (ABC) transporters superfamily Others G A 0.806 0.194
rs2032582 ABCB1 ATP-binding cassette (ABC) transporters superfamily Others T A 0.908 0.092
rs1128503 ABCB1 ATP-binding cassette (ABC) transporters superfamily Others T C 0.667 0.333 Gly412Gly Synonymous
rs10264272 CYP3A5 cytochrome P450 superfamily Phase I C T 1 0 Lys208Lys Not Available
rs776746 CYP3A5 cytochrome P450 superfamily Phase I G A 0.984 0.016 - Acceptor
rs4986913 CYP3A4 cytochrome P450 superfamily Phase I C T 1 0 Pro467Ser Missense
rs4986910 CYP3A4 cytochrome P450 superfamily Phase I T C 1 0 Met445Thr Missense
rs4986909 CYP3A4 cytochrome P450 superfamily Phase I C T 1 0 Pro416Leu Missense
rs12721634 CYP3A4 cytochrome P450 superfamily Phase I T C 1 0 Leu15Pro Missense
rs2740574 CYP3A4 cytochrome P450 superfamily Phase I A G 0.984 0.016 - 5′ Flanking
rs3815459 KCNH2 eag family Others A G 0.564 0.436 - Intronic
rs36210421 KCNH2 eag family Others G T 1 0 Arg707Leu Missense
rs12720441 KCNH2 eag family Others C T 1 0 Arg444Trp Missense
rs3807375 KCNH2 eag family Others A G 0.521 0.479 - Intronic
rs4986893 CYP2C19 cytochrome P450 superfamily Phase I G A 0.974 0.026 Trp212null Stop Codon
rs4244285 CYP2C19 cytochrome P450 superfamily Phase I G A 0.828 0.172 Pro227Pro Synonymous
rs1799853 CYP2C9 cytochrome P450 superfamily Phase I C T 1 0 Arg144Cys Missense
rs1801252 ADRB1 adrenergic receptors family Phase I G A 0.167 0.833 Ser49Gly Missense
rs1801253 ADRB1 adrenergic receptors family Phase I C G 0.813 0.188 Gly389Arg Missense
rs5219 KCNJ11 inward-rectifier potassium channel family Others C T 0.688 0.312 Lys23Glu Intronic
rs1695 GSTP1 glutathione S-transferase family Phase II A G 0.683 0.317 Ile105Val Missense
rs1138272 GSTP1 glutathione S-transferase family Phase II T C 0.058 0.942 Ala114Val Missense
rs1800497 ANKK1 Ser/Thr protein kinase family Phase I T C 0.253 0.747 Glu713Lys Missense
rs6277 DRD2 G-protein coupled receptor family Others C T 0.656 0.344 Pro290Pro Synonymous
rs4149056 SLCO1B1 solute carrier family Others T C 0.889 0.111 Val174Ala Missense
rs7975232 VDR nuclear receptor family Others C A 0.615 0.385 - Intronic
rs1544410 VDR nuclear receptor family Others G A 0.74 0.26 - Intronic
rs2239185 VDR nuclear receptor family Others T C 0.395 0.605 - Intronic
rs1540339 VDR nuclear receptor family Others G A 0.5 0.5 - Intronic
rs2239179 VDR nuclear receptor family Others A G 0.62 0.38 - Intronic
rs3782905 VDR nuclear receptor family Others C G 0.742 0.258 - Intronic
rs2228570 VDR nuclear receptor family Others T C 0.316 0.684 Met51Arg,Met51Lys,Met51Thr Missense
rs10735810 VDR nuclear receptor family Others C T 0.688 0.313 - -
rs11568820 VDR nuclear receptor family Others G A 0.658 0.342 - Not Available
rs1801030 SULT1A1 sulfotransferase family Phase II A G 1 0 Val223Met Not Available
rs3760091 SULT1A1 sulfotransferase family Phase II C G 0.659 0.341 - 5′ Flanking
rs7294 VKORC1 - Phase I G A 0.695 0.305 - 3′ UTR
rs9934438 VKORC1 - Phase I G A 0.427 0.573 - Intronic
rs28399454 CYP2A6 cytochrome P450 superfamily Phase I G A 1 0 Val365Met Missense
rs28399444 CYP2A6 cytochrome P450 superfamily Phase I AA - 1 0 Glu197Ser,Glu197Arg Frameshift
rs1801272 CYP2A6 cytochrome P450 superfamily Phase I T A 1 0 Leu160His Missense
rs28399433 CYP2A6 cytochrome P450 superfamily Phase I G T 0.13 0.87 - 5′ Flanking
rs3745274 CYP2B6 cytochrome P450 superfamily Phase I G T 0.792 0.208 Gln172His Missense
rs28399499 CYP2B6 cytochrome P450 superfamily Phase I T C 1 0 Ile328Thr Missense
rs3211371 CYP2B6 cytochrome P450 superfamily Phase I C T 0.495 0.505 Arg487Cys Missense
rs12659 SLC19A1 solute carrier family Others C T 0.589 0.411 Pro192Pro Synonymous
rs1051266 SLC19A1 solute carrier family Others G A 0.579 0.421 His27Arg Missense
rs1131596 SLC19A1 solute carrier family Others T C 0.872 0.128 - 5′ UTR
rs4680 COMT - Phase II A G 0.432 0.568 Val158Met 5′ Flanking
rs59421388 CYP2D6 cytochrome P450 superfamily Phase I C T 1 0 Val287Met Missense
rs28371725 CYP2D6 cytochrome P450 superfamily Phase I G A 0.896 0.104 - Intronic
rs16947 CYP2D6 cytochrome P450 superfamily Phase I G A 0.726 0.274 - Not Available
rs61736512 CYP2D6 cytochrome P450 superfamily Phase I C A/G/T 1 0 Val136Met Intronic
rs28371706 CYP2D6 cytochrome P450 superfamily Phase I C T 1 0 Thr107Ile Missense
rs5030656 CYP2D6 cytochrome P450 superfamily Phase I AAG - 1 0 - Non-synonymous