Annotation Detail

Information
Associated Genes
PON1
Associated Variants
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 c.-108C>T
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 )
PON1 c.-108C>T
Associated Disease
Cardiovascular Diseases
Source Database
DisGeNET
Description
Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations.
Pubmed
15008790
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.176508362089265
Year of publication
2004
Drugs