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
Carcinoma of lung
Source Database
DisGeNET
Description
Homozygous Trp/Trp variant genotype of XRCC1 Arg194Trp polymorphism could increase lung cancer risk in total population, especially in Asians.
Pubmed
20975374
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0195438147897818
Year of publication
2010
Drugs