Annotation Detail
Information
- Associated Genes
- APEX1
- Associated Variants
-
APEX1 p.Gln51His (p.Q51H)
(
ENST00000216714.8,
ENST00000555414.5,
ENST00000398030.8,
ENST00000557054.1 )
APEX1 p.Gln51His (p.Q51H) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Carriers of the APEX1 codon 51 Gln/His genotype had a reduced CRC risk compared with carriers of the Gln/Gln genotype (odds ratio (OR) = 0.15, 95% CI = 0.03-0.69, P = 0.015).
- Pubmed
- 21037106
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0119111047631309
- Year of publication
- 2010
Drugs