Table 2 Characteristics of IL1B three htSNPs selected and SNPs in PPP1R13L and POLR1G.
Gene/chromosome/rsa | Position | Functional consequence | Base change | Allele frequency in HapMap HCBb | Control MAFc in this study |
|---|---|---|---|---|---|
IL1B Chr2q14.1 | |||||
rs1143633 | 112832890 | Intron | A/G | A0.5465/G0.4535 | G0.46 |
rs3136558 | 112833698 | Intron | T/C | T0.7442/C0.2558 | C0.38 |
rs1143630 | 112834078 | Intron | C/A | C0.9024/A0.0976 | A0.16 |
PPP1R13L Chr19q13.32 | |||||
rs1970764 | 45387615 | Intron | A/G | No | G0.48d |
POLR1G Chr19q13.32 | |||||
rs967591 | 45406676 | 5′ UTR | G/A | G0.5250/A0.4750e | A0.42d |
rs735482 | 45408744 | Exon, missense | A/C | A0.5581/C0.4419 | C0.45d |