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
squamous cell carcinoma
Source Database
DisGeNET
Description
We conclude that the XRCC1 Arg399Gln polymorphism has potential as a biomarker for EC susceptibility in the Chinese population, particularly for squamous cell carcinoma.
Pubmed
23359058
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0634053676330992
Year of publication
2014
Drugs