rs number | Variant | Amino acid substitution | Minor allele frequency | rs number | Variant | Amino acid substitution | Minor allele frequency |
---|---|---|---|---|---|---|---|
Promoter variants | |||||||
rs11602903 | c.-788A>T | 0.265 | rs559946 | c.-424C>T | 0.265 | ||
rs524023 | c.-764C>T | 0.265 | rs3825018 | c.-220A>G | 0.265 | ||
rs9734313 | c.-718C>T | 0.265 | – | c.-46G>A | 0.007 | ||
Coding variant | |||||||
rs3825017 | c.246C>T | N82N | 0.224 | rs121907893 | c.650C>T | T217M | 0.007 |
rs3825016 | c.258C>T | H86H | 0.265 | rs121907892 | c.774G>A | W258X | 0.044 |
rs11231825 | c.426T>C | H142H | 0.265 | rs7932775 | c.1309T>C | L437L | 0.427 |
Non-coding variants | |||||||
– | c.506+32T>C | 0.007 | rs78880801 | c.1070+66C>T | 0.008 | ||
rs75786299 | c.661+11G>A | 0.037 | rs373337426 | c.1071-33C>T | 0.022 | ||
– | c.662-18C>G | 0.007 | rs7929627 | c.1286-103A>G | 0.427 | ||
rs2021860 | c.830+109G>T | 0.265 | – | c.1395-105C>T | 0.007 | ||
rs1529909 | c.831-45T>C | 0.273 | rs11231837 | c.1598+18C>T | 0.427 | ||
3′UTR variants | |||||||
rs139299506 | c.*163delTC | 0.007 | rs3832794 | c.*291delG | 0.316 | ||
rs148845071 | c.*268G>A | 0.037 | rs476037 | c.*517G>A | 0.316 |
Data were obtained from DNA samples from 68 unrelated Korean individuals.
The position of the variant is based upon the translational start site.