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
myocardial infarction
Source Database
DisGeNET
Description
We evaluated three PON polymorphisms (PON1 Leu55Met and Gln192Arg; PON2 Ser311Cys) as possible risk factors for coronary atherosclerotic disease (CAD) and/or its main thrombotic complication, myocardial infarction (MI).
Pubmed
14984433
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0494884303302931
Year of publication
2004
Drugs