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Table 1 Allele frequency and genotype distribution in the Kazakh population (а number of chromosomes; b number of alleles)

From: Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan

  # Assay name RS Number of samples Hardy-Weinberg equilibrium p-value Allele na Frequency Genotype nb Frequency
drug transporters   ATP-binding cassette
1 ABCB1_C3435ntT rs1045642 280 0.39184 A 257 0.46 AA 55 0.20
   G 303 0.54 AG 147 0.53
      GG 78 0.8
2 ABCB1_T1236ntC rs1128503 278 0.72281 A 292 0.53 AA 75 0.27
   G 264 0.47 AG 142 0.51
      GG 61 0.22
3 ABCB1_2677nt G > T rs2032582 275 0.03713 C 308 0.56 СС 95 0.35
   A 242 0.44 CA 118 0.43
      AA 62 0.23
4 ABCB1_2677nt G > A rs2032582 240 0 C 409 0.85 СС 189 0.79
   T 71 0.15 СT 31 0.13
      TT 20 0.08
5 ABCC2_V417I rs2273697 279 0.03662 G 472 0.85 GG 195 0.70
   A 86 0.15 GA 82 0.29
      AA 2 0.01
6 ABCC2_I1324I rs3740066 279 0.32311 C 388 0.70 СС 131 0.47
   T 170 0.30 СT 126 0.45
      TT 22 0.08
7 ABCC2_-24C > T rs717620 292 0.36682 C 467 0.80 СС 184 0.63
   T 117 0.20 СT 99 0.34
      TT 9 0.03
8 ABCG2_ 421 nt C > A rs2231142 281 1 G 476 0.85 GG 201 0.72
   T 86 0.15 GT 74 0.26
      TT 6 0.02
  Solute carrier family 15 (H+/peptide transporter)
9 SLC15A2_P409S rs1143671 288 1 T 315 0.55 TT 86 0.30
      C 261 0.45 TC 143 0.50
         CC 59 0.20
10 SLC15A2_R509K rs1143672 258 0.5314 A 282 0.55 AA 74 0.29
      G 234 0.45 AG 134 0.52
         GG 50 0.19
11 SLC15A2_A284A rs2293616 287 0.5535 A 302 0.53 AA 82 0.29
      G 272 0.47 AG 138 0.48
         GG 67 0.23
12 SLC15A2_L350F rs2257212 277 0.90495 C 252 0.45 СС 58 0.21
      T 302 0.55 СT 136 0.49
         TT 83 0.30
  Solute carrier family 22 (organic cation transporter)
13 SLC22A1_420del3 rs72552763 280 0.43952 GAT 512 0.91 GAT/GAT 235 0.84
      del 48 0.09 GAT/del 42 0.15
         del/del 3 0.01
14 SLC22A1_P283L rs4646277 269 1 C 525 0.98 СС 256 0.95
      T 13 0.02 СT 13 0.05
         TT 0 0.00
15 SLC22A1_P341L rs2282143 242 0.36537 C 463 0.96 СС 222 0.92
      T 21 0.04 СT 19 0.08
         TT 1 0.00
16 SLC22A1_M408V rs628031 272 0.79314 G 351 0.65 GG 112 0.41
      A 193 0.35 GA 127 0.47
         AA 33 0.12
17 SLC22A1_G465R rs34059508 283 0.06258 G 557 0.98 GG 275 0.97
   A 9 0.02 GA 7 0.02
      AA 1 0.00
18 SLC22A2_K432Q rs8177517 276 1 T 544 0.99 TT 268 0.97
   G 8 0.01 TG 8 0.03
      GG 0 0.00
19 SLC22A2_M165I rs8177507 289 1 C 569 0.98 СС 280 0.97
   T 9 0.02 СT 9 0.03
      TT 0 0.00
20 SLC22A2*4.1_S270A rs316019 267 0.376 C 495 0.93 CC 228 0.85
   A 39 0.07 CA 39 0.15
      AA 0 0.00
  Solute carrier organic anion transporter family
21 SLCO1B1*1B_N130D rs2306283 267 0.53112 G 307 0.57 GG 91 0.34
   A 227 0.43 GA 125 0.47
      AA 51 0.19
22 SLCO1B1*5_V174A rs4149056 243 0.14152 T 410 0.84 TT 176 0.72
   C 76 0.16 TC 58 0.24
      CC 9 0.04
23 SLCO1B3_699G > A rs7311358 265 0.13227 A 402 0.76 AA 157 0.59
   G 128 0.24 GA 88 0.33
      GG 20 0.08
24 SLCO1B3_334T > G rs4149117 254 0.85656 G 395 0.78 GG 154 0.61
   T 113 0.22 GT 87 0.34
      TT 13 0.05
25 SLCO2B1*3_S486F rs2306168 275 0.11608 C 461 0.84 СС 197 0.72
   T 89 0.16 СT 67 0.24
      TT 11 0.04
Phase II metabolizing enzymes   Glutathione S-transferase pi 1
26 GSTP1_V105I rs1695 276 0.71558 C 437 0.79 AA 174 0.63
   T 115 0.21 AG 89 0.32
      GG 13 0.05
  N-acetyltransferase
27 NAT1_884A > G rs55793712 294 1 A 584 0.99 AA 290 0.99
   G 4 0.01 AG 4 0.01
      GG 0 0.00
28 NAT1*11A-C g.-344C > T rs4986988 278 1 C 545 0.98 СС 267 0.96
   T 11 0.02 СT 11 0.04
      TT 0 0.00
29 NAT1*14_560G > A rs4986782 289 1 G 576 1.00 GG 287 0.99
   A 2 0.00 GA 2 0.01
      AA 0 0.00
30 NAT2*5_341T > C rs1801280 256 0.00661 C 136 0.27 СС 27 0.11
   T 376 0.73 СT 82 0.32
      TT 147 0.57
31 NAT2*6_590G > A rs1799930 269 0.62646 G 402 0.75 GG 148 0.55
   A 136 0.25 GA 106 0.39
      AA 15 0.06
32 NAT2*7_857G > A rs1799931 278 1 A 62 0.11 AA 3 0.01
   G 494 0.89 GA 56 0.20
      GG 219 0.79
33 NAT2*11_481C > T rs1799929 267 0.03425 C 398 0.75 СС 155 0.58
   T 136 0.25 СT 88 0.33
      TT 24 0.09
34 NAT2*12_803A > G rs1208 272 0.18999 A 409 0.75 AA 158 0.58
   G 135 0.25 AG 93 0.34
      GG 21 0.08
35 NAT2*13_282C > T rs1041983 293 0.13049 C 368 0.63 СС 109 0.37
   T 218 0.37 СT 150 0.51
      TT 34 0.12
  Thiopurine S-methyltransferase
36 TPMT*3B_460 G > A A154T rs1800460 249 1 C 492 0.99 CC 243 0.98
   T 6 0.01 CT 6 0.02
      TT 0 0.00
37 TPMT*3C_719A > G C240Y rs1142345 242 1 T 477 0.99 TT 235 0.97
   C 7 0.01 TC 7 0.03
      CC 0 0.00
  UDP glucuronosyltransferase
38 UGT1A1*27_686C > A rs35350960 289 1 C 577 1.00 СС 288 1.00
   A 1 0.00 CA 1 0.00
      AA 0 0.00
39 UGT2B15*2_253G > T rs1902023 255 0.61468 A 281 0.55 AA 75 0.29
   C 229 0.45 AC 131 0.51
      CC 49 0.19
40 UGT1A1*6_211G > A rs4148323 288 0.66077 G 485 0.84 GG 205 0.71
   A 91 0.16 GA 75 0.26
      AA 8 0.03
41 UGT2B7*2b_-327G > A rs7662029 286 0.72247 A 307 0.54 AA 84 0.29
   G 265 0.46 AG 139 0.49
      GG 63 0.22
42 UGT1A1*60_-3263 T > G rs4124874 274 0.52854 T 326 0.59 TT 94 0.34
   G 222 0.41 TG 138 0.50
      GG 42 0.15
43 UGT2B7*2a_-161C > T rs7668258 277 0.90334 T 295 0.53 TT 79 0.29
   C 259 0.47 TC 137 0.49
      CC 61 0.22
   Dihydropyrimidine dehydrogenase
Phase I metabolizing enzymes 44 DPYD*2A_IVS14 + 1G > A rs3918290 288 1 C 575 1.00 СС 287 1.00
   T 1 0.00 СT 1 0.00
      TT 0 0.00
45 DPYD*7_delTACT hCV32287186 279 1 ATGA 551 0.99 ATGA/ATGA 272 0.97
   del 7 0.01 ATGA/del 7 0.03
      del/del 0 0.00
46 DPYD*9A_C29R rs1801265 268 0.8213 A 450 0.84 AA 188 0.70
   G 86 0.16 AG 74 0.28
      GG 6 0.02
  Cytochrome P450
47 CYP1A1*2 g.2455A > G rs1048943 279 0.20473 T 463 0.83 TT 195 0.70
   C 95 0.17 TC 73 0.26
      CC 11 0.04
48 CYP1A1*4 g.2453C > A rs1799814 282 0.17395 G 549 0.97 GG 268 0.95
   T 15 0.03 GT 13 0.05
      TT 1 0.00
49 CYP1A1*9 g.2461C > T rs41279188 294 1 G 587 1.00 GG 293 1.00
   A 1 0.00 GA 1 0.00
      AA 0 0.00
50 CYP1A2*1C g.-3860G > A rs2069514 259 0.01548 G 437 0.84 GG 190 0.73
   A 81 0.16 GA 57 0.22
      AA 12 0.05
51 CYP1A2*1 F g.-163C > A rs762551 297 0.60371 A 394 0.66 AA 133 0.45
   C 200 0.34 CA 128 0.43
      CC 36 0.12
52 CYP1A2*1 K g.-729C > T rs12720461 294 1 C 587 1.00 СС 293 1.00
   T 1 0.00 СT 1 0.00
      TT 0 0.00
53 CYP2A6*2 g.1799 T > A rs1801272 261 1 A 515 0.99 AA 254 0.97
   T 7 0.01 AT 7 0.03
      TT 0 0.00
54 CYP2A6*9 g.-48 T > G rs28399433 261 0.06641 A 460 0.88 AA 206 0.79
   C 62 0.12 AC 48 0.18
      CC 7 0.03
55 CYP2B6*6 g.15631G > T rs3745274 232 0.40492 G 339 0.73 GG 121 0.52
   T 125 0.27 GT 97 0.42
      TT 14 0.06
56 CYP2B6*8 g.13072A > G rs12721655 265 1 A 529 1.00 AA 264 1.00
   G 1 0.00 AG 1 0.00
      GG 0 0.00
57 CYP2B6*16 g. 21011 T > C rs28399499 299 1 T 583 0.97 TT 284 0.95
   C 15 0.03 TC 15 0.05
      CC 0 0.00
58 CYP2C8*2 g.11054A > T rs11572103 275 1 T 548 1.00 TT 273 0.99
   A 2 0.00 TA 2 0.01
      AA 0 0.00
59 CYP2C8*3 g.30411A > G rs10509681 278 1 T 530 0.95 TT 252 0.91
   C 26 0.05 TC 26 0.09
      CC 0 0.00
60 CYP2C8*3 g.2130G > A rs11572080 270 1 C 512 0.95 СС 242 0.90
   T 28 0.05 СT 28 0.10
      TT 0 0.00
61 CYP2C8*4 g.11041C > G rs1058930 282 1 G 557 0.99 GG 275 0.98
   C 7 0.01 GC 7 0.02
      CC 0 0.00
62 CYP2C9*2 g.3608C > T rs1799853 277 1 C 527 0.95 СС 250 0.90
   T 27 0.05 СT 27 0.10
      TT 0 0.00
63 CYP2C9*3 g.42614A > C rs1057910 247 0.37469 A 457 0.93 AA 210 0.85
   C 37 0.07 AC 37 0.15
      CC 0 0.00
64 CYP2C9*12 g.50338C > T rs9332239 282 1 C 535 0.95 СС 253 0.90
   T 29 0.05 СT 29 0.10
      TT 0 0.00
65 CYP2C19 rs17878459 239 1 G 475 0.99 GG 236 0.99
   C 3 0.01 GC 3 0.01
      CC 0 0.00
66 CYP2C19 g.99C > T rs17885098 259 0.14454 C 50 0.10 СС 0 0.00
   T 468 0.90 СT 50 0.19
      TT 209 0.81
67 CYP2C19*2 g.19154G > A (splicing defect) rs4244285 265 0.28264 G 439 0.83 GG 179 0.68
   A 91 0.17 GA 81 0.31
      AA 5 0.02
68 CYP2C19*2 g.80160C > T rs3758580 283 0.3245 C 462 0.82 СС 191 0.67
   T 104 0.18 СT 80 0.28
      TT 12 0.04
69 CYP2C19*3 g.17948G > A rs4986893 278 1 G 533 0.96 GG 255 0.92
   A 23 0.04 GA 23 0.08
      AA 0 0.00
70 CYP2C19*3B g.87313A > C rs17886522 289 1 A 547 0.95 AA 258 0.89
   C 31 0.05 AC 31 0.11
      CC 0 0.00
71 CYP2C19*8 g.12711 T > C rs41291556 119 1 T 237 1.00 TT 118 0.99
   C 1 0.00 TC 1 0.01
      CC 0 0.00
72 CYP2C9*11 g.42542C > T rs28371685 277 1 C 553 1.00 СС 276 1.00
   T 1 0.00 СT 1 0.00
      TT 0 0.00
73 CYP2C19*17 g.-806C > T rs12248560 279 0.00451 C 494 0.89 СС 224 0.80
   T 64 0.11 СT 46 0.16
      TT 9 0.03
74 CYP2D6*3 g.2549delA rs35742686 280 1 T 545 0.97 T/T 265 0.95
   del 15 0.03 T/del 15 0.05
      del/del 0 0.00
75 CYP2D6*4 g.1846G > A rs3892097 290 0.42114 C 507 0.87 СС 223 0.77
   T 73 0.13 СT 61 0.21
      TT 6 0.02
76 CYP3A5*5 g.12952 T > C rs55965422 272 1 A 525 0.97 AA 253 0.93
   G 19 0.03 AG 19 0.07
      GG 0 0.00
77 CYP2D6*7 g.2935A > C rs5030867 264 1 T 527 1.00 TT 263 1.00
   G 1 0.00 TG 1 0.00
      GG 0 0.00
78 CYP2D6*9 g.2613_2615delAGA rs72549350 296 1 TCT 570 0.96 TCT/TCT 274 0.93
   del 22 0.04 TCT/del 22 0.07
      del/del 0 0.00
79 CYP2D6*40 g.1863_1864ins(TTTCGCCCC)2 hCV32407240 292 1 - 577 0.99 −/−' 285 0.98
   ins 7 0.01 Ins/- 7 0.02
      Ins/Ins 0 0.00
80 CYP2E1*2 g.1132G > A rs72559710 290 1 G 577 0.99 GG 287 0.99
   A 3 0.01 GA 3 0.01
      AA 0 0.00
81 CYP3A4*2 g.15713 T > C rs55785340 273 1 A 540 0.99 AA 267 0.98
   G 6 0.01 AG 6 0.02
      GG 0 0.00
82 CYP3A4*6 c.830_831insA rs4646438 276 1 - 551 1.00 −/− 275 1.00
   insA 1 0.00 -/insA 1 0.00
      insA/insA 0 0.00
drug targets   Vitamin K epoxide reductase complex
83 VKORC1 rs8050894 268 0.43311 G 337 0.63 GG 109 0.41
   C 199 0.37 GC 119 0.44
      CC 40 0.15