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
- Primary hypercholesterolemia
- Source Database
- DisGeNET
- Description
- This study was performed to evaluate the contribution of the PON1 promoter (-107)T>C and the coding region Gln 192 Arg (Q192R) and Leu 55 Met (L55M) polymorphisms to the presence of carotid atherosclerosis in 208 Sicilian subjects with primary hypercholesterolemia.
- Pubmed
- 15087255
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2004
Drugs