Annotation Detail

Information
Associated Genes
APEX1
Associated Variants
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 )
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 )
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
A common APE1 polymorphism, a T-->G transversion (Asp 148 Glu), was previously shown to be associated with risk of lung cancer, an association that was modified by cigarette smoking.
Pubmed
16425270
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0489256835428042
Year of publication
2006
Drugs