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
- endometriosis
- Source Database
- DisGeNET
- Description
- Polymorphism of XRCC1 codon arg 399 Gln is associated with higher susceptibility to endometriosis.
- Pubmed
- 18442016
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00800129794383184
- Year of publication
- 2007
Drugs