Annotation Detail

Information
Associated Genes
XRCC1
Associated Variants
XRCC1 MUTATION
XRCC1 MUTATION
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
Associated Disease
Squamous cell carcinoma of the head and neck
Source Database
DisGeNET
Description
In conclusion, the result from our study provides additional evidence of an association of the XRCC1 polymorphism (Arg194Trp) with SCCHN as markers of genetic susceptibility in the Korean population.
Pubmed
15252855
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00570027931368637
Year of publication
2004
Drugs