Table 1.
No | Polymorphisms | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 |
1 | EX1-1139 D' (r2) | 0.20 (0.13) | |||||||||||||
2 | EX1-1128 | 0.82 (0.57) | 0.22 (0.13) | ||||||||||||
3 | EX1-900 | 0.92 (0.30) | 0.98 (0.39) | 0.41 (0.22) | |||||||||||
4 | EX-128 | 0.89 (0.27) | 0.95 (0.35) | 1 (0.93) | 0.42 (0.22) | ||||||||||
5 | EX-52 | 1 (0.01) | 1 (0.01) | 1 (0.02) | 0.68 (0.02) | 0.03 (0.02) | |||||||||
6 | Val72Ala | N/A | N/A | N/A | N/A | N/A | 0 (0.03) | ||||||||
7 | Arg194Trp | 1 (0.02) | 1 (0.02) | 0.97 (0.04) | 0.97 (0.04) | 1 (0) | N/A | 0.06 (0.12) | |||||||
8 | IVS7-33 | 0.04 (0) | 0.05 (0) | 0.06 (0) | 0.06 (0) | 0.15 (0) | N/A | 0.13 (0) | 0.46 (0.11) | ||||||
9 | Pro206Pro | 0.89 (0.24) | 0.96 (0.32) | 1 (0.83) | 0.97 (0.83) | 0.39 (0.01) | N/A | 0.98 (0.05) | 0.06 (0) | 0.44 (0.26) | |||||
10 | Arg280His | 0.65 (0) | 0.93 (0.01) | 0.79 (0.02) | 0.74 (0.02) | 1 (0) | N/A | 1 (0) | 1 (0.04) | 0.70 (0.02) | 0.04 (0.10) | ||||
11 | Arg399Gln | 0.87 (0.11) | 0.93 (0.14) | 1 (0.39) | 0.96 (0.39) | 0.04 (0) | N/A | 1 (0.04) | 0.08 (0) | 0.99 (0.47) | 1 (0.03) | 0.37 (0.23) | |||
12 | Gln632Gln | 0.86 (0.24) | 0.95 (0.32) | 0.99 (0.84) | 0.91 (0.77) | 1 (0.02) | N/A | 0.91 (0.04) | 0.06 (0) | 0.97 (0.90) | 0.61 (0.01) | 1 (0.45) | 0.56 (0.29) | ||
13 | EX17-123 | 0.69 (0.01) | 0.76 (0.01) | 0.86 (0.03) | 0.92 (0.03) | 1 (0) | N/A | 1 (0) | 0 (0) | 0.94 (0.04) | 0.82 (0) | 0.98 (0.03) | 0.88 (0.04) | 0.06 (0.13) | |
14 | EX17-127 | 0.69 (0.03) | 0.75 (0.04) | 0.95 (0.33) | 0.96 (0.32) | 1 (0.01) | N/A | 0.77 (0.01) | 0.08 (0) | 1 (0.30) | 1 (0.01) | 1 (0.16) | 0.99 (0.31) | 0.11 (0) | 0.21 (0.09) |
Values in bold italics represent the observed followed by estimated (in round bracket) control minor allele frequencies from public databases.
* LD is presented in pairwise D' followed by r2 in round bracket.
N/A = Not available because of no pairwise variant genotypes in rare polymorphisms.
Values in bold are polymorphisms in high LD (D' ≥ 0.90and r2 ≥ 0.80).