Table 2 Allele frequency of each variant identified in this study, using 151 control subjects compared with frequency from various population
Exon | dbSNP ID | This study | Population | Minor allele frequency | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
Cases | Controls | CDX | CHS | KHV | JPT | ExAC | 1000 Genomes | GO-ESP | ||
2 | rs6599230 c.87 | T = 0.33 C = 0.67 | T = 0.37 C = 0.63 | T = 0.40 C = 0.60 | T = 0.30 C = 0.70 | T = 0.29 C = 0.71 | T = 0.38 C = 0.62 | T = 0.2263/27239 | T = 0.2183/1093 | T = 0.1640/2022 |
12 | rs1805124 c.1673 | T = 0.92 C = 0.08 | T = 0.84 C = 0.16 | T = 0.93 C = 0.07 | T = 0.93 C = 0.07 | T = 0.87 C = 0.13 | T = 0.92 C = 0.08 | C = 0.2217/26713 | C = 0.2304/1154 | C = 0.2463/3108 |
17 | rs7430407 c.3183 | T = 0.00 C = 1.00 | NA | T = 0.01 C = 0.99 | T = 0.00 C = 1.00 | T = 0.01 C = 0.99 | T = 0.00 C = 1.00 | T = 0.0872/10512 | T = 0.0769/385 | T = 0.1150/1471 |
28 | rs1805126 c.5457 | A = 0.37 G = 0.63 | A = 0.43 G = 0.57 | A = 0.39 G = 0.61 | A = 0.42 G = 0.58 | A = 0.35 G = 0.65 | A = 0.50 G = 0.50 | G = 0.3878/46827 | G = 0.4924/2466 | G = 0.4314/5544 |
28 | rs376826051 c.5712 | C = 0.96 T = 0.04 | C = 1.00 T = 0.00 | NA | NA | NA | NA | T = 0.0006/71 | NA | T = 8e-5 /1 |
3′UTR | rs7429945 c.*123 | T = 0.37 C = 0.63 | T = 0.44 C = 0.56 | T = 0.39 C = 0.61 | T = 0.42 C = 0.58 | T = 0.51 C = 0.49 | T = 0.35 C = 0.65 | NA | C = 0.4944/2476 | NA |
3′UTR | rs41310757 c.*753 | G = 0.88 A = 0.12 | G = 0.78 A = 0.22 | G = 0.74 A = 0.26 | G = 0.75 A = 0.25 | G = 0.74 A = 0.26 | G = 0.76 A = 0.24 | NA | A = 0.1144/573 | NA |
3′UTR | rs4073796 c.*962 | G = 0.46 A = 0.54 | G = 0.42 A = 0.58 | G = 0.39 A = 0.61 | G = 0.43 A = 0.57 | G = 0.35 A = 0.65 | G = 0.51 A = 0.49 | NA | A = 0.4940/2474 | NA |
3′UTR | rs4073797 c.*963 | A = 0.46 T = 0.54 | A = 0.42 T = 0.58 | A = 0.40 T = 0.60 | A = 0.43 T = 0.57 | A = 0.35 T = 0.65 | A = 0.51 T = 0.49 | NA | T = 0.4918/2463 | NA |
3′UTR | rs11414422 c.*1453_*1454 | C = 0.54 CT = 0.46 | C = 0.44 CT = 0.56 | C = 0.84 CT = 0.16 | C = 0.51 CT = 0.49 | C = 0.44 CT = 0.56 | C = 0.65 CT = 0.35 | NA | T = 0.3169/1587 | NA |
3′UTR | rs41315485 c.*1537 | A = 0.92 G = 0.08 | A = 0.87 G = 0.13 | A = 0.89 G = 0.11 | A = 0.91 G = 0.09 | A = 0.91 G = 0.09 | A = 0.85 G = 0.15 | NA | G = 0.1795/899 | NA |
3′UTR | rs45592631 c.*2145_*2146 | - = 0.00 ins = 1.00 | NA | - = 0.00 ins = 1.00 | - = 0.00 ins = 1.00 | - = 0.01 ins = 0.99 | - = 0.00 ins = 1.00 | NA | - = 0.0068/34 | NA |