Annotation Detail
Information
- Associated Genes
- ALOX5AP
- Associated Variants
-
ALOX5AP c.241+767G>A
(
ENST00000617770.4,
ENST00000380490.5 )
ALOX5AP c.412+182G>A ( ENST00000617770.4, ENST00000380490.5 )
rs4646903
ERCC2 SNV
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 )
ALOX5AP c.241+767G>A ( ENST00000380490.5, ENST00000617770.4 )
ALOX5AP c.412+182G>A ( ENST00000380490.5, ENST00000617770.4 )
rs4646903
ERCC2 SNV
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- rs4769874 (ALOX5AP), rs854560 (PON1), and rs4646903 (CYP1A1 MspI polymorphism) are significantly associated with an increased risk of CAD with respective odds ratios of 1.53703, 1.67710, and 1.35520; the genetic variant rs9579646 (ALOX5AP) is significantly associated with a decreased risk of CAD (OR 0.76163).
- Pubmed
- 25902778
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0168169215039046
- Year of publication
- 2015
Drugs