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
Chronic Obstructive Airway Disease
Source Database
DisGeNET
Description
XRCC1 Arg194Trp polymorphism and risk of chronic obstructive pulmonary disease.
Pubmed
19821085
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0076439796799667
Year of publication
2009
Drugs