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
- cataract
- Source Database
- DisGeNET
- Description
- XRCC1 Arg399Gln polymorphisms were associated with cataract risk (recessive model: ORfixed = 0.79, 95% CI: 0.67-0.93; dominant model: ORfixed = 0.84, 95% CI: 0.64-1.11; additive model: ORfixed = 0.82, 95% CI: 0.72-0.92).
- Pubmed
- 25285569
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2016
Drugs