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 )
NC_000007.14:g.95324601G>C
NC_000007.14:g.95324637T>C
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 )
NC_000007.14:g.95324601G>C
NC_000007.14:g.95324637T>C - Associated Disease
- Hypercholesterolemia, Familial
- Source Database
- DisGeNET
- Description
- In 187 patients with familial hypercholesterolemia, we studied the seven most common single nucleotide polymorphisms (SNPs) in both the coding and promoter sequences of PON1 (L55M, Q192R, T-107C, C-126G, G-162A, G-824A, and C-907G) in terms of PON1 activity and intima media thickness (IMT) of the carotid arterial wall, a validated surrogate marker for CVD.
- Pubmed
- 15642273
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124624443347029
- Year of publication
- 2005
Drugs