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
Malignant neoplasm of urinary bladder
Source Database
DisGeNET
Description
A meta-analysis on XRCC1 R399Q and R194W polymorphisms, smoking and bladder cancer risk.
Pubmed
18765423
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0786113317763094
Year of publication
2008
Drugs