Table 1. Affymetrix DMET results in Korean, EUR, EAS, and AFR populations.
| Gene* | rs number | Common name | Sample count | Reference allele | Alternative allele | Alternative allele frequency† (%) | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Korean | Global | EUR | EAS | AFR | ||||||
| CYP2C19 | rs12248560 | CYP2C19*17_-806C>T | 1,012 | C | T | 1.04 | 15.32 | 22.37 | 1.49 | 23.52 |
| rs28399504 | CYP2C19*4_1A>G(M1V) | 1,012 | A | - | 0.00 | 0.08 | 0.10 | 0.10 | 0.00 | |
| rs55752064 | CYP2C19*14_50T>C(L17P) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs17878459 | CYP2C19*2B_12460G>C(E92D) | 1,009 | G | C | 0.05 | 0.90 | 3.58 | 0.00 | 0.38 | |
| rs41291556 | CYP2C19*8_12711T>C(W120R) | 1,012 | T | - | 0.00 | 0.10 | 0.30 | 0.00 | 0.08 | |
| rs72558184 | CYP2C19*6_12748G>A(R132Q) | 1,012 | G | - | 0.00 | 0.04 | 0.04 | 0.00 | 0.00 | |
| rs17884712 | CYP2C19*9_12784G>A(R144H) | 1,009 | G | A | 0.05 | 0.28 | 0.00 | 0.00 | 0.98 | |
| rs4986893 | CYP2C19*3_17948G>A(W212X) | 1,010 | G | A | 9.55 | 1.42 | 0.00 | 5.56 | 0.23 | |
| rs6413438 | CYP2C19*10_19153C>T(P227L) | 1,011 | C | T | 0.00 | 0.06 | 0.00 | 0.00 | 0.15 | |
| rs4244285 | CYP2C19*2_19154G>A(P227P) | 1,012 | G | A | 29.05 | 22.14 | 14.51 | 31.25 | 17.02 | |
| rs72558185 | CYP2C19_721insG | 1,012 | - | - | 0.00 | - | - | - | - | |
| rs72558186 | CYP2C19*7_19294T>A(SpliceDefect) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs17879685 | CYP2C19*13_87290C>T(R410C) | 1,012 | C | - | 0.00 | 0.56 | 0.00 | 0.00 | 1.97 | |
| rs56337013 | CYP2C19*5_90033C>T(R433W) | 1,012 | C | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs5787121 | CYP2C19_90052delG | 1,012 | G | - | 0.00 | - | - | - | - | |
| rs55640102 | CYP2C19*12_90209A>C(X491C) | 1,012 | A | - | 0.00 | 0.09 | 0.10 | 0.00 | 0.00 | |
| CYP2C9 | rs72558187 | CYP2C9*13_3276T>C(L90P) | 1,008 | T | C | 0.25 | 0.06 | 0.00 | 0.30 | 0.00 |
| rs72558188 | CYP2C9*25_3531_3540del10 | 1,012 | AGAAATGGAA | - | 0.00 | - | - | - | - | |
| rs72558189 | CYP2C9*14_3552G>A(R125H) | 1,012 | G | - | 0.00 | 0.42 | 0.00 | 0.10 | 0.00 | |
| rs1799853 | CYP2C9*2_3608C>T(R144C) | 1,012 | C | T | 0.05 | 4.79 | 12.43 | 0.10 | 0.83 | |
| rs72558190 | CYP2C9*15_9100C>A(S162x) | 1,012 | C | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs2256871 | CYP2C9*9_10535A>G(H251R) | 1,012 | A | - | 0.00 | 2.20 | 0.10 | 0.00 | 8.17 | |
| rs9332130 | CYP2C9*10_10598A>G(E272G) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs9332131 | CYP2C9*6_10601delA(K273X) | 1,012 | A | - | 0.00 | 0.22 | 0.00 | 0.00 | 0.83 | |
| rs72558192 | CYP2C9*16_33497A>G(T299A) | 1,012 | A | - | 0.00 | 0.02 | 0.00 | 0.10 | 0.00 | |
| rs28371685 | CYP2C9*11_42542C>T(R335W) | 1,012 | C | - | 0.00 | 0.72 | 0.20 | 0.00 | 2.42 | |
| rs1057909 | CYP2C9_42612A>G(Y358C) | 1,009 | A | G | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs56165452 | CYP2C9*4_42615T>C(I359T) | 1,009 | T | C | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs28371686 | CYP2C9*5_42619C>G(D360E) | 823 | C | G | 0.00 | 0.46 | 0.00 | 0.00 | 1.66 | |
| rs2017319 | CYP2C9_55221C>T(A441A) | 1,012 | C | - | 0.00 | 3.39 | 0.20 | 0.00 | 12.03 | |
| rs1057911 | CYP2C9_55323A>T(G475G) | 1,011 | A | T | 4.45 | 4.89 | 7.26 | 10.90 | 0.45 | |
| rs9332239 | CYP2C9*12_50338C>T(P489S) | 1,012 | C | - | 0.00 | 0.08 | 0.30 | 0.00 | 0.00 | |
| CYP2C8 | rs28399518 | CYP2C8_32364C>T(3'UTR) | 1,010 | C | T | 0.00 | 0.58 | 0.00 | 0.00 | 2.19 |
| rs3832694 | CYP2C8*12_32184_32186delTTG(V461X) | 1,012 | TTG | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs66501115 | CYP2C8_30425C>G(P404A) | 1,012 | C | - | 0.00 | - | - | - | - | |
| rs10509681 | CYP2C8*3_30411A>G(K399R) | 1,012 | A | G | 0.05 | 4.57 | 11.83 | 0.10 | 0.83 | |
| rs72558194 | CYP2C8_30384T>C(L390S) | 1,012 | T | - | 0.00 | 0.01 | 0.01 | 0.00 | 0.00 | |
| rs11572103 | CYP2C8*2_11054A>T(I269F) | 1,012 | A | - | 0.00 | 5.47 | 0.40 | 0.00 | 18.91 | |
| rs1058930 | CYP2C8*4_11041C>G(I264M) | 1,012 | C | G | 0.20 | 1.66 | 5.77 | 0.00 | 0.38 | |
| rs72558195 | CYP2C8*7or*8_4517C>T>G(R186XorG) | 1,012 | C | - | 0.00 | 0.04 | 0.04 | 0.00 | 0.10 | |
| rs72558196 | CYP2C8*5_2189delA(T159X) | 1,012 | A | - | 0.25 | 0.01 | 0.00 | 0.19 | 0.00 | |
| rs11572080 | CYP2C8*3_2130G>A(R139K) | 1,012 | G | A | 0.05 | 4.57 | 11.83 | 0.10 | 0.83 | |
| rs11572066 | CYP2C8_-86A>C | 1,012 | A | - | 0.00 | 0.76 | 0.00 | 0.00 | 2.65 | |
| SLCO1B1 | rs4149015 | SLCO1B1*17_c.-11187G>A(Promoter) | 1,011 | G | A | 14.44 | 5.47 | 6.46 | 13.10 | 0.68 |
| rs56101265 | SLCO1B1*2_c.217T>C(F73L) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs56061388 | SLCO1B1_c.245T>C(V82A) | 1,011 | T | C | 0.00 | 0.01 | 0.00 | 3.00 | 0.00 | |
| rs2306283 | SLCO1B1*1B_c.388A>G(N130D) | 1,012 | A | G | 72.33 | 62.24 | 59.74 | 76.19 | 18.23 | |
| rs2306282 | SLCO1B1*16_c.452A>G(N151S) | 1,011 | A | G | 1.29 | 0.08 | 0.00 | 0.40 | 0.00 | |
| rs72559745 | SLCO1B1*3_c.467A>G(E156G) | 1,011 | A | - | 0.00 | 1.65 | 1.63 | - | - | |
| rs4149056 | SLCO1B1*5_c.521T>C(V174A) | 1,012 | T | C | 14.67 | 8.77 | 16.10 | 12.30 | 1.36 | |
| rs4149057 | SLCO1B1_c.571T>C(L191L) | 1,012 | T | C | 27.17 | 36.74 | 60.74 | 24.31 | 14.45 | |
| rs72559746 | SLCO1B1*18_c.578T>G(L193R) | 1,012 | T | - | 0.00 | 8.21 | 8.14 | - | - | |
| rs2291075 | SLCO1B1_c.597C>T(F199F) | 1,012 | C | T | 41.85 | 41.55 | 39.66 | 51.09 | 55.98 | |
| rs72559747 | SLCO1B1_c.1007C>G(P336R) | 1,011 | C | G | 0.15 | 0.08 | 0.00 | 0.40 | 0.00 | |
| rs55901008 | SLCO1B1*6_c.1058T>C(I353T) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs56387224 | SLCO1B1*7_c.1294A>G(N432D) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs72559748 | SLCO1B1*8_c.1385A>G(D462G) | 1,012 | A | - | 0.00 | - | - | - | - | |
| rs59502379 | SLCO1B1*9_c.1463G>C(G488A) | 1,012 | G | - | 0.00 | 1.12 | 0.00 | 0.00 | 4.08 | |
| rs56199088 | SLCO1B1*10_c.1964A>G(D655G) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs55737008 | SLCO1B1*11_c.2000A>G(E667G) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| VKORC1 | rs7294 | VKORC1_c.*134G>A(3'UTR) | 1,012 | G | A | 7.76 | 38.54 | 37.39 | 9.60 | 45.87 |
| rs11540137 | VKORC1_c.*131C>A(3'UTR) | 1,012 | C | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs104894542 | VKORC1_c.383T>G(L128R) | 1,012 | T | - | 0.00 | - | - | - | - | |
| rs7200749 | VKORC1_c.358C>T(L120L) | 1,012 | C | - | 0.00 | 5.97 | 0.00 | 0.00 | 21.94 | |
| rs72547528 | VKORC1_c.292C>T(R98W) | 1,012 | C | - | 0.00 | 0.02 | 0.01 | - | 0.00 | |
| rs17884982 | VKORC1_c.284-882A>T | 1,012 | A | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.08 | |
| rs17884850 | VKORC1_c.283+231G>A | 1,012 | G | - | 0.00 | 0.08 | 0.08 | 0.00 | 0.03 | |
| rs17886199 | VKORC1_c.283+186T>C | 1,012 | T | - | 0.00 | 1.50 | 0.10 | 0.00 | 5.52 | |
| rs8050894 | VKORC1_c.283+124G>C | 1,012 | C | G | 92.09 | 41.63 | 39.96 | 88.49 | 25.64 | |
| rs72547529 | VKORC1_c.196G>A(V66M) | 1,012 | G | - | 0.00 | 0.20 | 0.00 | 0.00 | 0.68 | |
| rs9934438 | VKORC1_c.174-136C>T | 1,010 | C | T | 92.13 | 35.58 | 38.77 | 88.49 | 5.45 | |
| rs13336384 | VKORC1_c.174-429C>T | 1,009 | C | T | 0.00 | 1.84 | 0.00 | 0.00 | 6.66 | |
| rs17708472 | VKORC1_c.173+525C>T | 1,012 | C | T | 0.15 | 9.37 | 23.36 | 0.30 | 3.33 | |
| rs13337470 | VKORC1_c.173+486C>A | 1,012 | C | - | 0.00 | 0.60 | 0.00 | 0.00 | 2.27 | |
| rs2884737 | VKORC1_c.173+324T>G | 1,011 | T | C | 0.54 | 9.15 | 25.55 | 0.10 | 0.91 | |
| rs104894541 | VKORC1_c.172A>G(R58G) | 1,012 | A | - | 0.00 | - | - | - | - | |
| rs104894540 | VKORC1_c.134T>C(V45A) | 1,011 | T | C | 0.00 | - | - | - | - | |
| rs104894539 | VKORC1_c.85G>T(V29L) | 1,006 | G | T | 0.00 | 0.00 | 0.00 | - | - | |
| rs9923231 | VKORC1_c.-1639G>A(Promoter) | 1,012 | G | A | 92.05 | 35.56 | 38.77 | 88.49 | 5.45 | |
| rs17878544 | VKORC1_c.-1877A>G(Promoter) | 1,011 | A | - | 0.00 | 12.08 | 1.19 | 0.00 | 42.44 | |
| rs17884388 | VKORC1_c.-5014T>C(Promoter) | 1,012 | T | - | 0.00 | 0.08 | 0.00 | 0.00 | 0.30 | |
| CYP4F2 | rs2108622 | CYP4F2*3_18000G>A(V433M) | 1,011 | G | A | 31.85 | 23.86 | 29.03 | 21.43 | 8.25 |
| rs2074900 | CYP4F2_11602C>T(H343H) | 1,011 | C | T | 22.01 | 23.30 | 29.72 | 22.22 | 17.25 | |
| rs4605294 | CYP4F2_8103C>T(L278F) | 1,011 | C | T | 0.00 | 0.00 | 0.00 | - | - | |
| rs3093153 | CYP4F2_7207G>T(G185V) | 1,011 | G | T | 0.15 | 3.00 | 6.96 | 0.00 | 3.78 | |
| rs3093136 | CYP4F2_5034C>G(A116A) | 1,012 | C | - | 0.00 | 0.42 | 0.00 | 0.00 | 1.59 | |
| rs8110714 | CYP4F2_2099C>T(N112N) | 1,011 | C | T | 0.00 | 3.49 | 0.00 | 0.30 | 12.41 | |
| rs8100960 | CYP4F2_2042A>C(G93G) | 1,009 | A | C | 0.00 | 3.49 | 0.00 | 0.30 | 12.41 | |
| rs3093106 | CYP4F2_165A>G(P55P) | 1,011 | A | G | 13.16 | 18.01 | 17.69 | 5.85 | 32.00 | |
| rs2906890 | CYP4F2_38C>G(P13R) | 1,012 | C | - | 0.00 | - | - | - | - | |
| rs2906891 | CYP4F2_36G>C(W12C) | 1,012 | G | - | 0.00 | - | - | - | - | |
| CYP2B6 | rs34223104 | CYP2B6*22_-82T>C | 1,011 | T | C | 0.54 | 1.64 | 0.89 | 0.20 | 3.63 |
| rs8192709 | CYP2B6*2_64C>T(R22C) | 1,009 | C | T | 2.97 | 4.75 | 6.26 | 4.66 | 4.16 | |
| rs35303484 | CYP2B6*11_136A>G(M46V) | 1,012 | A | - | 0.00 | 0.12 | 0.40 | 0.00 | 0.08 | |
| rs2279341 | CYP2B6_12740G>C(P72P) | 1,009 | G | C | 3.12 | 5.19 | 6.06 | 4.86 | 5.14 | |
| rs36060847 | CYP2B6*12_12820G>A(G99E) | 1,012 | G | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.00 | |
| rs12721655 | CYP2B6*8_13072A>G(K139E) | 1,012 | A | - | 0.00 | 0.08 | 0.10 | 0.00 | 0.15 | |
| rs35773040 | CYP2B6*14_13076G>A(R140Q) | 1,012 | G | A | 0.05 | 0.10 | 0.20 | 0.00 | 0.00 | |
| rs4803418 | CYP2B6_14593C>G | 1,006 | C | G | 47.02 | 29.13 | 31.91 | 43.45 | 9.53 | |
| rs3826711 | CYP2B6*26_15614C>G(P167A) | 1,010 | C | G | 0.69 | 0.10 | 0.00 | 0.50 | 0.00 | |
| rs36056539 | CYP2B6*20_15618C>T(T168I) | 822 | C | T | 0.00 | 0.02 | 0.00 | 0.00 | 0.00 | |
| rs45482602 | CYP2B6*3_18045C>A(S259R) | 1,012 | C | A/T | 0.00 | 0.08/0.06 | 0.10/0.00 | 0.00/0.00 | 0.08/0.23 | |
| rs2279343 | CYP2B6*4_18053A>G(K262R) | 1,012 | A | G | 22.18 | 22.85 | 22.47 | - | 22.90 | |
| rs2279344 | CYP2B6_18273G>A | 897 | G | A | 66.22 | 76.16 | 62.52 | 69.44 | 87.07 | |
| rs28399499 | CYP2B6*16_21011T>C(I328T) | 1,012 | T | - | 0.00 | 2.32 | 0.00 | 0.00 | 8.25 | |
| rs34826503 | CYP2B6*19_21034C>T(R336C) | 1,012 | C | - | 0.00 | 0.10 | 0.00 | 0.10 | 0.30 | |
| rs34097093 | CYP2B6*28_21160C>T(R378X) | 1,012 | C | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs35979566 | CYP2B6*15_21388T>A(I391N) | 1,012 | T | - | 0.00 | 0.18 | 0.50 | 0.00 | 0.08 | |
| rs35010098 | CYP2B6*21_21498C>A(P428T) | 1,011 | C | A | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs8192719 | CYP2B6_21563C>T | 1,012 | C | T | 16.11 | 31.69 | 24.16 | 21.63 | 37.44 | |
| DPYD | rs1801268 | DPYD*10_c.2983G>T(V995F) | 1,012 | G | - | 0.00 | 0.00 | 0.00 | - | 0.00 |
| rs1801267 | DPYD*9B_c.2657G>A(R886H) | 1,012 | G | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.00 | |
| rs3918289 | DPYD_c.1905C>T(N635N) | 1,012 | C | - | 0.00 | 0.02 | 0.10 | 0.00 | 0.00 | |
| rs55886062 | DPYD*13_c.1679T>G(I560S) | 1,012 | T | - | 0.00 | 0.02 | 0.10 | 0.00 | 0.00 | |
| rs1801158 | DPYD*4_c.1601G>A(S534N) | 1,010 | G | A | 0.00 | 0.96 | 3.08 | 0.00 | 0.23 | |
| rs1042479 | DPYD_c.1074T>A(R358R) | 1,012 | T | - | 0.00 | - | - | - | - | |
| rs1042478 | DPYD_c.1035T>C(F345F) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs72549306 | DPYD*11_c.1003G>T(V335L) | 1,012 | G | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs6675198 | DPYD_c.756T>C(G252G) | 1,011 | T | C | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | |
| rs1801266 | DPYD*8_c.703C>T(R235W) | 1,012 | C | - | 0.00 | 0.01 | 0.01 | - | 0.00 | |
| rs6670886 | DPYD_c.525G>A(S175S) | 1,012 | G | - | 0.00 | 0.01 | 0.01 | 0.00 | 0.16 | |
| rs2297595 | DPYD_c.496A>G(M166V) | 1,012 | A | G | 1.68 | 5.65 | 11.93 | 1.79 | 3.10 | |
| rs72549309 | DPYD*7_c.295delTCAT | 1,012 | TCAT | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs1801265 | DPYD*9_c.85T>C(C29R) | 1,011 | T | C | 5.69 | 22.57 | 21.80 | 4.60 | 40.28 | |
| rs72549310 | DPYD_c.61C>T(R21X) | 1,012 | C | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.08 | |
| CYP2D6 | rs1135840 | CYP2D6_4180G>C(S486T) | 1,007 | C | G | 65.79 | 59.06 | 58.67 | - | 65.00 |
| rs1135836 | CYP2D6*18_4125dupGTGCCCACT | 1,004 | T | - | 0.00 | 0.08 | 0.00 | 0.40 | 0.00 | |
| rs72549346 | CYP2D6*42_3259insGT | 1,011 | - | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.23 | |
| rs72549347 | CYP2D6*56_3201C>T(R344X) | 1,010 | C | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.08 | |
| rs59421388 | CYP2D6*29_3183G>A(V338M) | 1,011 | G | - | 0.00 | 2.88 | 0.00 | 0.00 | 10.74 | |
| rs28371725 | CYP2D6*41_2988G>A(SpliceDefect) | 1,011 | G | A | 2.67 | 6.35 | 9.34 | 3.77 | 1.82 | |
| rs72549349 | CYP2D6*44_2950G>C(SpliceDefect) | 1,011 | G | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs5030867 | CYP2D6*7_2935A>C(H324P) | 1,011 | A | - | 0.00 | 0.18 | 0.00 | 0.00 | 0.00 | |
| rs16947 | CYP2D6_2850C>T(R296C) | 1,011 | C | T | 15.18 | 36.65 | 35.67 | - | 46.90 | |
| rs28371720 | CYP2D6*9_2615delAAG | 1,010 | AGA | - | 0.05 | - | - | - | - | |
| rs72549351 | CYP2D6*38_2587delGACT | 1,006 | GACT | - | 0.00 | - | - | - | - | |
| rs72549352 | CYP2D6*21_2573insC | 1,000 | - | C | 0.00 | 0.02 | 0.01 | 0.00 | 0.00 | |
| rs35742686 | CYP2D6*3_2549delA(R259X) | 1,010 | A | - | 0.00 | 0.56 | 1.89 | 0.00 | 0.23 | |
| rs72549353 | CYP2D6*19_2539delAACT | 1,009 | AACT | - | 0.00 | 0.02 | 0.01 | - | 0.00 | |
| rs72549354 | CYP2D6*20_1973insG | 1,011 | - | - | 0.00 | - | - | - | - | |
| rs72549356 | CYP2D6*40_1863ins(TTTCGCCCC)2 | 1,011 | - | - | 0.00 | 0.24 | 0.00 | 0.00 | 0.91 | |
| rs3892097 | CYP2D6*4_1846G>A(SpliceDefect) | 1,008 | G | A | 0.69 | 9.31 | 18.59 | 0.20 | 6.05 | |
| rs5030865 | CYP2D6*14or*8_1758G>A>T(G169RorX) | 1,011 | G | A | 0.69 | 0.20 | 0.00 | 0.99 | 0.00 | |
| rs1058164 | CYP2D6_1661G>C(V136V) | 1,011 | C | G | 66.12 | 58.12 | 57.67 | - | 64.2 | |
| rs61736512 | CYP2D6*29_1659G>A(V136I) | 781 | G | A | 0.00 | 2.94 | 0.00 | 0.00 | 10.97 | |
| rs28371706 | CYP2D6_1023C>T(T107I) | 1,011 | C | - | 0.00 | 5.91 | 0.20 | 0.00 | 21.79 | |
| rs5030863 | CYP2D6*11_883G>C(SpliceDefect) | 1,010 | G | C | 0.00 | - | - | - | - | |
| rs72549357 | CYP2D6*15_137insT | 1,011 | T | - | 0.00 | - | - | - | - | |
| rs5030862 | CYP2D6*12_124G>A(G42R) | 1,011 | G | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs1065852 | CYP2D6_100C>T(P34S) | 1,010 | C | T | 51.09 | 23.80 | 20.18 | 57.14 | 11.27 | |
| rs1080985 | CYP2D6_-1584C>G | 1,010 | C | G | 12.48 | 21.57 | 22.30 | - | - | |
| N/A | CYP2D6_-1961C>G>A | 1,010 | C | - | 0.00 | - | - | - | - | |
| rs28360521 | CYP2D6_-2178G>A | 1,007 | G | A | 50.99 | 26.94 | 20.18 | 57.04 | 23.07 | |
| UGT1A1 | rs4124874 | UGT1A1*60_c.-3279T>G(Promoter) | 1,006 | T | G | 30.27 | 58.81 | 41.55 | 35.62 | 89.86 |
| rs10929302 | UGT1A1*93_c.-3156G>A(Promoter) | 1,011 | G | A | 13.35 | 30.21 | 27.44 | 12.70 | 33.81 | |
| rs111741722 | UGT1A1_c.-2950A>G | 1,012 | A | G | 13.39 | 31.86 | 31.23 | - | - | |
| rs3755319 | UGT1A1*112_c.-1353A>C | 1,012 | A | C | 30.04 | 55.01 | 41.45 | 35.52 | 76.01 | |
| rs887829 | UGT1A1*80_c.-364C>T | 1,012 | C | T | 13.39 | 35.40 | 29.82 | 13.00 | 49.32 | |
| rs4148323 | UGT1A1*6_c.211G>A(G71R) | 1,011 | G | A | 17.90 | 3.43 | 0.70 | 13.79 | 0.08 | |
| rs72551340 | UGT1A1*45_c.222C>A(Y74X) | 814 | C | A | 0.00 | 0.00 | 0.00 | - | - | |
| rs56059937 | UGT1A1*62_c.247T>C(F83L) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs72551341 | UGT1A1*12_c.524T>A(L175Q) | 1,012 | T | - | 0.00 | 0.01 | 0.01 | - | 0.00 | |
| rs72551342 | UGT1A1*15_c.529T>C(C177R) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs72551343 | UGT1A1*8_c.625C>T(R209W) | 1,012 | C | - | 0.00 | 0.02 | 0.00 | 0.00 | 0.00 | |
| rs35350960 | UGT1A1*27_c.686C>A(P229Q) | 1,012 | C | A | 1.43 | 0.28 | 0.00 | 1.39 | 0.00 | |
| rs72551344 | UGT1A1*43_c.698T>G(L233R) | 1,012 | T | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs72551345 | UGT1A1*14_c.826G>C(G276R) | 1,012 | G | - | 0.00 | - | - | - | - | |
| rs62625011 | UGT1A1*11_c.923G>A(G308E) | 1,010 | G | A | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs72551348 | UGT1A1*9_c.992A>G(Q331R) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs72551349 | UGT1A1*10_c.1021C>T(R341X) | 1,012 | C | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs72551350 | UGT1A1*4_c.1069C>T(Q357X) | 1,012 | C | - | 0.00 | 0.00 | 0.01 | 0.00 | 0.00 | |
| rs72551351 | UGT1A1*16_c.1070A>G(Q357R) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs55750087 | UGT1A1*29_c.1099C>G(R367G) | 1,011 | C | - | 0.00 | 0.00 | 0.00 | - | - | |
| rs72551352 | UGT1A1*20_c.1102G>A(A368T) | 1,011 | G | - | 0.00 | - | - | - | - | |
| rs72551353 | UGT1A1*3_c.1124C>T(S375F) | 1,012 | C | - | 0.00 | - | - | - | - | |
| rs72551354 | UGT1A1*17_c.1143C>G(S381R) | 1,012 | C | - | 0.00 | 0.00 | 0.00 | 0.00 | 0.01 | |
| rs72551355 | UGT1A1*18_c.1201G>C(A401P) | 1,012 | G | - | 0.00 | - | - | - | - | |
| rs72551357 | UGT1A1*24_c.1309A>T(K437X) | 1,012 | A | - | 0.00 | - | - | - | - | |
| rs72551361 | UGT1A1*55_c.1487T>A(L496X) | 1,011 | T | A | 0.00 | - | - | - | - | |
| rs1042709 | UGT1A1_c.1531G>C(A511P) | 1,012 | G | - | 0.00 | 0.00 | - | - | 0.00 | |
| rs10929303 | UGT1A1*76_c.*211C>T(3'UTR) | 1,010 | T | C | 88.17 | 77.29 | 78.35 | 88.80 | 61.79 | |
| rs1042640 | UGT1A1*78_c.*339C>G(3'UTR) | 1,012 | C | G | 88.09 | 82.11 | 79.92 | 86.71 | 80.41 | |
| rs8330 | UGT1A1*79_c.*440C>G(3'UTR) | 1,012 | C | G | 88.09 | 74.50 | 76.34 | 86.90 | 56.20 | |
| TPMT | rs1142345 | TPMT*3C_c.719A>G(Y240C) | 1,012 | A | G | 1.68 | 3.91 | 2.88 | 2.18 | 6.66 |
| rs56161402 | TPMT*8_c.644G>A(R215H) | 1,012 | G | - | 0.00 | 0.56 | 0.00 | 0.00 | 1.97 | |
| rs1800584 | TPMT*4_c.626-1G>A(SpliceDefect) | 1,012 | G | - | 0.00 | 0.05 | 0.05 | - | 0.04 | |
| rs6921269 | TPMT*24_c.537G>T(Q179H) | 1,010 | G | T | 0.00 | 0.74 | 0.00 | 0.00 | 2.65 | |
| rs2842934 | TPMT_c.474C>T(I158I) | 1,012 | C | T | 73.62 | 75.3 | 77.63 | 76.19 | 81.01 | |
| rs72552739 | TPMT_c.292G>T(E98X) | 1,012 | G | - | 0.00 | 0.02 | 0.02 | - | 0.00 | |
| rs1800462 | TPMT*2_c.238G>C(A80P) | 1,012 | G | - | 0.00 | 0.22 | 0.60 | 0.00 | 0.08 | |
| CYP3A5 | rs28365085 | CYP3A5*3F_31551T>C(I488T) | 1,011 | T | C | 0.64 | 0.16 | 0.00 | 0.79 | 0.00 |
| rs41279854 | CYP3A5*3K_29753T>C(F446S) | 1,011 | T | - | 0.00 | 0.02 | 0.10 | 0.00 | 0.00 | |
| rs28365083 | CYP3A5*2_27289C>A(T398N) | 1,012 | C | - | 0.00 | 0.08 | 0.40 | 0.00 | 0.00 | |
| rs41303343 | CYP3A5*7_27131insT | 1,012 | T | - | 0.00 | 3.15 | 0.00 | 0.00 | 11.80 | |
| rs28383479 | CYP3A5*9_19386G>A(A337T) | 1,012 | G | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs10264272 | CYP3A5*6_14690G>A(SpliceDefect) | 1,012 | G | A | 0.05 | 4.45 | 0.30 | 0.00 | 15.43 | |
| rs56411402 | CYP3A5*4_14665A>G(Q200R) | 1,010 | A | G | 0.05 | 0.08 | 0.00 | 0.40 | 0.00 | |
| rs55965422 | CYP3A5*5_12952T>C(SpliceDefect) | 1,012 | T | C | 0.69 | 0.08 | 0.00 | 0.40 | 0.00 | |
| rs41279857 | CYP3A5_7303C>A(S100Y) | 1,010 | C | A | 0.00 | 0.06 | 0.20 | 0.00 | 0.00 | |
| rs56244447 | CYP3A5*3D_7249T>G(L82R) | 1,004 | T | - | 0.00 | 0.02 | 0.02 | 0.00 | 0.00 | |
| rs776746 | CYP3A5*3_6986A>G(SpliceDefect) | 1,005 | A | G | 78.06 | 88.17 | 93.02 | 67.70 | 30.20 | |
| rs72552791 | CYP3A5*3L_3775A>G(Y53C) | 1,012 | A | - | 0.00 | 0.00 | 0.00 | - | 0.00 | |
| rs28383468 | CYP3A5*3B_3705C>T(H30Y) | 1,012 | C | - | 0.00 | 0.17 | 0.16 | 0.00 | 0.05 | |
| rs55817950 | CYP3A5*8_3699C>T(R28C) | 1,012 | C | - | 0.00 | 0.01 | 0.00 | - | 0.00 | |
| G6PD | rs5030870 | G6PD_c.427G>A(D143N) | 1,012 | G | - | 0.00 | 0.00 | 0.00 | - | - |
DMET, Drug Metabolizing Enzyme and Transporter; EUR, European; EAS, East Asian; AFR, African.
*These pharmacogenes are referred to in the ‘Clinical Pharmacogenetics Implementation Consortium Dosing Guideline’; †EUR, EAS, AFR data from 1000 Genomes, Allele Frequency Aggregator, Exome Aggregation Consortium, Genome Aggregation Database, and HapMap.