Annotation Detail
Information
- Associated Genes
- NOS3
- Associated Variants
-
NOS3 p.Ser226Leu (p.S226L)
(
ENST00000297494.8,
ENST00000461406.5,
ENST00000467517.1,
ENST00000484524.5 )
NOS3 p.Ser226Leu (p.S226L) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glutamate to aspartate [Asp] at codon 298 [Asp298]) and the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) have been reported to be associated with atherosclerosis and cardiovascular disease.
- Pubmed
- 15494775
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.188876474204772
- Year of publication
- 2004
Drugs