Table 1.
SNP ID | Positiona | dbSNP ID | Ancestral alleles | Locationb | A1c | A2,3c | f(1)d | f(2)d | f(3)d | f(1/1)e | f(1/2)e | f(2/2)e | f(2/3)e | χ2f | 6Pf | r2vs. 3435C>Tg |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 12504716 | rs2157926 | A | 5′ UTR | A | T | 1 | 0 | 1 | 0 | 0 | — | — | — | ||
2 | 12455102 | rs3789243 | — | IVS 3+4196 A>G | A | G | 0.489 | 0.511 | 0.250 | 0.477 | 0.273 | 0.089 | 0.766 | 0.17 | ||
3 | 12438056 | rs1202180 | A | IVS 4+10988 A>G | A | G | 0.689 | 0.311 | 0.489 | 0.400 | 0.111 | 0.201 | 0.654 | 0.13 | ||
4 | 12430178 | rs1202168 | C | IVS 6+139 C>T | C | T | 0.536 | 0.464 | 0.214 | 0.643 | 0.143 | 3.589 | 0.058 | 0.24 | ||
5 | 12430066 | rs1202169 | A | IVS 6+251 A>G | A | G | 0.536 | 0.464 | 0.214 | 0.643 | 0.143 | 3.589 | 0.058 | 0.24 | ||
6 | 12413817 | rs1128503 | C | 1236C>T | C | T | 0.544 | 0.457 | 0.239 | 0.609 | 0.152 | 2.363 | 0.124 | 0.13 | ||
7 | 12413659 | rs2032588 | C | IVS 12+44 C>T | C | T | 0.940 | 0.060 | 0.900 | 0.080 | 0.020 | 4.228 | 0.040 | — | ||
8 | 12408282 | rs2235046 | G | IVS 16+73 G>A | G | A | 0.467 | 0.533 | 0.152 | 0.630 | 0.217 | 3.261 | 0.071 | 0.37 | ||
9 | 12402243 | rs3789246 | C | IVS 19+557 C>T | C | T | 0.958 | 0.042 | 0.917 | 0.083 | 0.000 | 0.091 | 0.763 | — | ||
10 | 12394834 | rs2032582 | G | 2677G>T,A | G | T,A | 0.472 | 0.493 | 0.0347 | 0.208 | 0.528 | 0.194 | 0.0694 | 0.804 | 0.370 | 0.32 |
11 | 12372861 | rs1045642 | C | 3435C>T | C | T | 0.396 | 0.604 | 0.104 | 0.583 | 0.313 | 2.315 | 0.128 | — | ||
12 | 12371234 | rs1882478 | T | IVS 26+1573 T>C | C | T | 0.750 | 0.250 | 0.546 | 0.409 | 0.046 | 0.364 | 0.547 | 0.36 | ||
13 | 12371123 | — | C | IVS 26+1684 C>T | C | T | 0.773 | 0.227 | 0.591 | 0.364 | 0.046 | 0.055 | 0.815 | 0.31 | ||
14 | 12368209 | rs1186746 | T | IVS 27+1220 T>C | C | T | 0.192 | 0.809 | 0.043 | 0.298 | 0.660 | 0.068 | 0.794 | 0.20 | ||
15 | 12368163 | rs1186745 | C | IVS 27+1266 C>A | A | C | 0.117 | 0.883 | 0.000 | 0.234 | 0.766 | 0.826 | 0.364 | 0.02 | ||
16 | 12356238 | rs2178658 | G | IVS 28+11158 G>T | G | T | 0.702 | 0.298 | 0.447 | 0.511 | 0.043 | 2.291 | 0.130 | 0.06 | ||
17 | 12356176 | — | A | IVS 28+11220 A>G | A | G | 0.198 | 0.802 | 0.042 | 0.313 | 0.646 | 0.012 | 0.913 | 0.06 |
SNP position within the reference contig (GenBank acc. no. NT_007933). bDerived from sequencing in chimp, calternative alleles of one locus, dallelic frequencies in unrelated CEPH individuals, egenotypic frequencies, fχ2 and P-values for test of fit to Hardy-Weinberg equilibrium, gpairwise LD values against 3435C>T.