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
- Xeroderma Pigmentosum, Complementation Group D
- Source Database
- DisGeNET
- Description
- This meta-analysis indicates that XRCC1 Arg399Gln polymorphisms, but not XPD Lys751Gln polymorphisms, are associated with risk of age-related cataract.
- Pubmed
- 25285569
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00977190739489092
- Year of publication
- 2016
Drugs