Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk.
Pubmed
21612998
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0623894946682962
Year of publication
2011
Drugs