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
endometrial carcinoma
Source Database
DisGeNET
Description
Association between Arg399Gln polymorphism of X-ray repair cross-complementing 1 (XRCC1) gene and sporadic endometrial cancer in the Polish population.
Pubmed
22053659
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Year of publication
2011
Drugs