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
- Glaucoma, Primary Open Angle
- Source Database
- DisGeNET
- Description
- We suggest that the 399 Arg/Gln polymorphism of the XRCC1 gene may serve as a predictive risk factor of POAG.
- Pubmed
- 26056729
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2015
Drugs