Annotation Detail
Information
- Associated Genes
- XRCC1
- Associated Variants
-
XRCC1 MUTATION
XRCC1 MUTATION
APEX1 p.Asp148Glu (p.D148E) ( ENST00000557054.1, ENST00000398030.8, ENST00000216714.8, ENST00000555414.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000555414.5, ENST00000216714.8, ENST00000557054.1, ENST00000398030.8 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
XRCC1 p.Gln399Arg (p.Q399R) ( ENST00000262887.10, ENST00000543982.5 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- These results suggest that APE1 Asp148Glu and XRCC1 Arg399Gln polymorphisms might modify the risk of lung cancer attributable to cigarette smoking exposure.
- Pubmed
- 15044328
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0998152566618621
- Year of publication
- 2004
Drugs