Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Hypercholesterolemia
Source Database
DisGeNET
Description
The ENOS Glu298Asp polymorphism was associated with hypercholesterolemia (odds ratio 0.658, 95%CI 0.460-0.940; p=0.025) and the ACE D/I variant was associated with hypertriglyceridemia (odds ratio 0.722, 95%CI 0.536-0.973; p=0.033).
Pubmed
17243909
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00800129794383184
Year of publication
2007
Drugs