Gene/SNP | Function | chr | n | Genotypic frequencies | Allelic frequencies | MAF# | Functional consequence# | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
XRCC1 | BER | 19q13 | |||||||||||||
rs25487* | 436 | CC | 0.42 | CT | 0.48 | TT | 0.10 | C | 0.66 | T | 0.34 | 0.26 | Missense | ||
rs25489 | 483 | CC | 0.88 | CT | 0.12 | TT | 0.00 | C | 0.94 | T | 0.06 | 0.06 | Missense | ||
rs1799782* | 487 | AA | 0.00 | AG | 0.12 | GG | 0.88 | A | 0.06 | G | 0.94 | 0.13 | Missense | ||
ERCC2 | NER | 19q13 | |||||||||||||
rs13181 | 482 | GG | 0.10 | GT | 0.47 | TT | 0.43 | G | 0.34 | T | 0.66 | 0.24 | Missense | ||
ERCC1 | NER | 19q13 | |||||||||||||
rs11615 | 488 | AA | 0.39 | AG | 0.46 | GG | 0.16 | A | 0.61 | G | 0.39 | 0.36 | Synonymous codon | ||
LIG4 | DSBR | 13q23 | |||||||||||||
rs1805388† | 488 | AA | 0.04 | AG | 0.25 | GG | 0.71 | A | 0.17 | G | 0.83 | 0.15 | Missense | ||
rs1805386† | 480 | AA | 0.70 | AG | 0.26 | GG | 0.04 | A | 0.83 | G | 0.17 | 0.10 | Synonymous codon | ||
ATM | DSBR | 11q22 | |||||||||||||
rs17503908 | 486 | GG | 0.00 | GT | 0.18 | TT | 0.81 | G | 0.09 | T | 0.91 | 0.06 | Intron variant | ||
rs1800057 | 486 | CC | 0.94 | CG | 0.06 | GG | 0.00 | C | 0.97 | G | 0.03 | 0.02 | Missense | ||
TP53 | DSBR | 17p13 | |||||||||||||
rs1042522 | 484 | CC | 0.59 | CG | 0.35 | GG | 0.06 | C | 0.76 | G | 0.24 | 0.39 | Missense |