Table 2.
rs number (alternative name) |
Position | Amino acid substitution | Genotype | MAF(1) | HWE(2) | |||
---|---|---|---|---|---|---|---|---|
C/C(3) | C/R | R/R | Control | Case | ||||
rs3813946 (T/C) |
Exon (5′ UTR) | No | TT | CT | CC | 0.144 | 0.184 | 0.309 |
rs311306 (G/C) |
Intron 1 | No | GG | CG | CC | 0.139 | 0.20 | 0.299 |
rs1567190 (T/C) |
Intron 1 | No | TT | CT | CC | 0.419 | 0.34 | 0.864 |
rs17615 (G/A) |
Coding exon 10 | Ser639Asn (AGT-AAT) | GG | AG | AA | 0.133 | 0.163 | 0.077 |
rs17045328 (A/G) |
Intron 16 | No | AA | AG | GG | 0.262 | 0.208 | 0.517 |
rs12032512 (C/G) |
Intron 17 | No | CC | CG | GG | 0.419 | 0.45 | 0.396 |
rs6690215 (C/T) |
Intron 18 | No | CC | CT | TT | 0.463 | 0.43 | 0.618 |
rs17045468 (C/T) |
Intron 18 | No | CC | CT | TT | 0.255 | 0.23 | 0.379 |
(1)MAF: minor allele frequency; (2)HWE: P values of deviation from Hardy-Weinberg equilibrium.
(3)C/C: major homozygote; C/R: heterozygote; R/R: minor homozygote.