Minor allele (frequency) | |||||
---|---|---|---|---|---|
dsSNP ID | Location NM_000371.3 (HGVS) | Location | Controls | V30M Carriers | P-valuea |
rs3764478 | c.-136-1247G > T | 5'upstream | T (0.09) | T (0.07) | |
rs71383038 | c.-136-1097_-1096delCA | 5'upstream | CA9 (0.31) | CA9 (0.17) | 0.0034 |
rs72922940 | c.-136-1032A > G | 5'upstream | G (0.07) | G (0.05) | |
rs3764477 | c.-136-1021G > A | 5'upstream | A (0.00) | A (0.01) | |
rs58616646 | c.-136-1000C > T | 5'upstream | T (0.00) | T (0.01) | |
* | c.-136-697C > T | 5'upstream | T (0.03) | T (0.01) | |
rs3794885 | c.-136-607A > T | 5'upstream | T (0.32) | T (0.18) | 0.0041 |
* | c.-136-546G > A | 5'upstream | A (0.02) | A (0.03) | |
rs723744 | c.70-383G > T | intronic | T (0.31) | T (0.19) | |
rs1800458 | c.76G > A, p.G26R | exon 2 | A (0.04) | A (0.02) | |
rs28933979 | c.148G > T, p.V50 M (V30M) | exon 2 | G (0.00) | G (0.51) | |
rs1080093 | c.200+691C > G | intronic | G (0.31) | G (0.20) | |
rs1080094 | c.200+806A > G | intronic | G (0.30) | G (0.20) | |
rs3764476 | c.336+1242C > A | intronic | A (0.30) | A (0.20) | |
ENSSNP11324634 | c.336+1432A > G | intronic | G (0.00) | G (0.01) | |
rs7235277 | c.336+1655G > C | intronic | C (0.37) | C (0.18) | |
rs3794884 | c.337-1560T > G | intronic | G (0.31) | G (0.19) | |
rs36204272 | c.337-18G > C | intronic | C (0.00) | C (0.01) | |
rs62093482 | c.*261C > T | 3'UTR | T (0.04) | C (0.48) | < 0.0001b |