Annotation Detail
Information
- Associated Genes
- PON1
- Associated Variants
-
PON1 p.Gln192Arg (p.Q192R)
(
ENST00000222381.8 )
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 )
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
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 )
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Three polymorphisms in the PON1 (Leu55Met and Gln192Arg) and PON2 (Ser311Cys) genes have been shown to be associated with the risk of CAD in several European or European-derived populations.
- Pubmed
- 12454802
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.207603420334903
- Year of publication
- 2003
Drugs