Annotation Detail
Information
- Associated Genes
- PON1
- Associated Variants
-
PON1 p.Gln192Arg (p.Q192R)
(
ENST00000222381.8 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 ) - Associated Disease
- myocardial infarction
- Source Database
- DisGeNET
- Description
- The association between systemic PON1 activity measures and a functional polymorphism (Q192R) resulting in high PON1 activity with prevalent CVD and future major adverse cardiac events (myocardial infarction, stroke, or death) was evaluated in 1399 sequential consenting patients undergoing diagnostic coronary angiography between September 2002 and November 2003 at the Cleveland Clinic.
- Pubmed
- 18349088
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0494884303302931
- Year of publication
- 2008
Drugs