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
colorectal cancer
Source Database
DisGeNET
Description
The meta-analysis suggests that the XRCC1 Arg399Gln polymorphism is associated with increased risk of CRC.
Pubmed
23188703
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0623894946682962
Year of publication
2013
Drugs