Annotation Detail

Information
Associated Genes
OGG1
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
breast carcinoma
Source Database
DisGeNET
Description
Moreover, the combination of the C-C haplotype of OGG1 with the APEX1 Asp148Glu genotype was also associated with an additive risk effect of BC [ORs=2.44, 2.87, and 3.50, respectively].
Pubmed
24076439
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00488595369744546
Year of publication
2013
Drugs