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 )
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 )
Associated Disease
Carotid Atherosclerosis
Source Database
DisGeNET
Description
In conclusion, our data provided no evidence of a significant association between either PON1 promoter (-107)T>C or coding region, Q192R and L55M, polymorphisms and early carotid atherosclerosis in Sicilian hypercholesterolemic subjects.
Pubmed
15087255
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00453856695524446
Year of publication
2004
Drugs