Research
Tag

Base Excision Repair

5 genetic variants with this tag.

RSID Gene Description Category
rs1799782 XRCC1 R194W Missense variant in the linker region of XRCC1 that disrupts interaction with... Cancer Risk Strong
rs25487 XRCC1 R399Q Base excision repair scaffold protein that coordinates repair of oxidative DN... Cancer Risk Strong
rs34612342 MUTYH Y179C Most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associ... Cancer Risk Established
rs36053993 MUTYH G396D Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH... Cancer Risk Established
rs804279 GATA4 GATA4/NEIL2 PCOS Susceptibility Intergenic variant at the GATA4/NEIL2 locus on chromosome 8p23.1 associated w... Fertility & Ovarian Function Moderate