Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Age-related cataract
- Source Database
- DisGeNET
- Description
- Polymorphisms of DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln), and the risk of age-related cataract: a meta-analysis.
- Pubmed
- 25285569
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2016
Drugs