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. 2014 Sep 30;20:1758–1767. doi: 10.12659/MSM.892091

Table 1.

Genotype and allele distributions of the twenty SNPs in patients with CIS and control subjects.

SNP Chr. 1 postion Function dbSNP allele MAF Total Han Uygur
CIS Control P value CIS Control P value CIS Control P value
1 rs17111503 55503448 5′ near gene Upstream variant 2KB A/G 0.3375 Genotype AA 81 59 0.223 42 22 0.094 39 37 0.757
SNP1 AG 197 158 115 86 82 72
GG 130 131 93 91 37 40
Allele A 359 276 0.088 199 130 0.028* 160 146 0.684
G 457 420 301 268 156 152
2 rs2479408 55504118 5′ near gene Upstream variant 2KB C/G 0.1708 Genotype CC 385 314 0.064 249 192 0.013* 136 122 0.446
SNP2 CG 21 33 1 7 20 36
GG 2 1 0 0 2 1
Allele C 791 661 0.050 499 391 0.013* 292 270 0.423
G 25 35 1 7 24 28
rs2479409 55504650 5′ near gene Upstream variant 2KB A/G 0.4362 Genotype AA 75 58 0.789 34 24 0.864 41 34 0.715
3 SNP3 AG 190 162 110 87 80 75
GG 143 128 106 88 37 40
Allele A 340 278 0.496 178 135 0.599 162 143 0.416
G 476 418 322 263 154 155
4 rs11583680 55505668 Exon 1 Missense (V-A) T/C 0.0905 Genotype CC 328 280 0.237 194 159 0.099 134 121 0.673
SNP4 CT 78 62 56 37 22 25
TT 2 6 0 3 2 3
Allele C 734 622 0.710 444 355 0.850 290 267 0.350
T 82 74 56 43 26 31
5 rs10888896 555509213 Intron 1 Intron variant C/G 0.2374 Genotype CC 326 280 0.797 203 169 0.360 123 111 0.782
SNP5 CG 76 61 45 27 31 34
GG 6 7 2 3 4 4
Allele C 728 621 0.995 451 365 0.436 277 256 0.521
G 88 75 49 33 39 42
6 rs4927193 55509872 Intron 2 Intron variant C/T 0.1377 Genotype CC 2 5 0.347 0 3 0.097 2 2 0.863
SNP6 CT 82 64 59 39 23 25
TT 324 279 191 157 133 122
Allele C 86 74 0.953 59 45 0.818 27 29 0.609
T 730 622 441 353 289 269
7 rs499718 55512549 Intron 3 Intron variant C/T 0.247 Genotype CC 276 240 0.829 154 130 0.564 122 110 0.778
SNP7 CT 116 97 86 64 30 33
TT 16 11 10 5 6 6
Allele C 668 577 0.570 394 324 0.332 274 253 0.520
T 148 119 106 74 42 45
8 rs529787 55513521 Intron 3 Intron variant C/G 0.1166 Genotype CC 384 312 0.049* 249 191 0.006* 135 121 0.452
SNP8 CG 22 35 1 8 21 27
GG 2 1 0 0 2 1
Allele C 790 659 0.039* 499 390 0.006* 291 269 0.426
G 26 37 1 8 25 29
9 rs11206514 55516004 Intron 3 Intron variant A/C 0.4096 Genotype AA 248 212 0.670 152 124 0.899 96 88 0.727
SNP9 AC 141 115 89 67 52 48
CC 19 21 9 8 10 13
Allele A 637 539 0.772 393 315 0.842 244 224 0.551
C 179 157 107 83 72 74
10 rs572512 55517344 Intron 3 Intron variant C/T 0.4596 Genotype CC 54 40 0.711 26 14 0.365 28 26 0.993
SNP10 CT 171 144 102 78 69 66
TT 183 164 122 107 61 57
Allele C 279 224 0.469 154 106 0.171 125 118 0.991
T 537 472 346 292 191 180
11 rs2479413 55518682 Intron 5 Intron variant C/T 0.3191 Genotype CC 225 193 0.090 141 124 0.183 84 69 0.054
SNP11 CT 150 140 95 70 55 70
TT 33 15 14 5 19 10
Allele C 600 526 0.363 377 318 0.109 223 208 0.834
T 216 170 123 80 93 90
12 rs7552841 55518752 Intron 5 Intron variant C/T 0.284 Genotype CC 264 235 0.602 176 143 0.886 88 92 0.502
SNP12 CT 126 96 65 48 61 48
TT 18 17 9 8 9 9
Allele C 654 566 0.564 417 334 0.834 237 232 0.406
T 162 130 83 64 79 66
13 rs557435 55520864 Intron 5 Intron variant A/G 0.1662 Genotype AA 5 1 0.242 1 0 0.668 4 1 0.260
SNP13 AG 56 56 32 25 24 31
GG 347 291 217 174 130 117
Allele A 66 58 0.862 34 25 0.755 32 33 0.703
G 750 638 466 373 284 265
14 rs693668 55521109 Intron 5 Intron variant A/G 0.3912 Genotype AA 212 189 0.772 131 116 0.441 81 73 0.908
SNP14 AG 164 135 100 71 64 64
GG 32 24 19 12 13 12
Allele A 588 513 0.472 362 303 0.205 226 210 0.774
G 228 183 138 95 90 88
15 R434W 5552339? Exon 8 Missense (R-W) C/T / Genotype CC 408 348 250 199 158 149
SNP15 CT
TT
Allele C 816 696 500 199 316 298
T
16 rs540796 55524197 Exon 9 Synonymous codon (V-V) G/A 0.1354 Genotype AA 1 2 0.585 0 0 0.716 1 2 0.340
SNP16 AG 29 20 5 5 24 25
GG 378 326 245 194 133 132
Allele A 31 24 0.716 5 5 0.714 26 19 0.378
G 785 672 495 393 290 279
17 rs149311926 55525315 Exon 10 Missense (E-Q) G/C 0.0005 Genotype CC 408 348 250 199 158 149
SNP17 CG
GG
Allele C 816 696 500 398 316 298
G
18 rs483462 55525400 Intron 10 Intron variant A/G 0.3223 Genotype AA 279 234 0.939 170 135 0.907 109 99 0.837
SNP18 AG 116 102 73 57 43 45
GG 13 12 7 7 6 5
Allele A 674 570 0.721 413 327 0.863 261 243 0.734
G 142 126 87 71 55 55
19 rs10465832 55528807 Intron 11 Intron variant C/G 0.1483 Genotype CC 2 3 0.778 1 2 0.654 1 1 0.419
SNP19 CG 75 67 54 39 21 28
GG 331 278 195 158 136 120
Allele C 79 73 0.603 56 43 0.850 23 30 0.218
G 737 623 444 355 293 268
20 rs505151 55529187 Exon 12 Missense (E-G) A/G 0.0983 Genotype AA 365 310 0.878 219 179 0.537 146 131 0.399
SNP20 AG 41 37 30 20 11 17
GG 2 1 1 0 1 1
Allele A 771 657 0.940 468 378 0.380 303 279 0.207
G 45 39 32 20 13 19