Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- diffuse large B-cell lymphoma
- Source Database
- DisGeNET
- Description
- In addition, the XRCC1 Arg194Trp polymorphism was associated with decreased NHL risk (Arg/Trp vs. Arg/Arg, OR: 0.72; 95% CI: 0.49-1.07; Trp/Trp vs. Arg/Arg, OR: 0.45; 95% CI: 0.10-1.99; p trend: 0.059), mainly in diffuse large B-cell lymphoma.
- Pubmed
- 17666372
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2007
Drugs