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
- spina bifida
- Source Database
- DisGeNET
- Description
- The nitric oxide synthase 3 (NOS3) G594T polymorphism has been implicated in risk for spina bifida, and interactions between that single nucleotide polymorphism (SNP) and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have also been observed.
- Pubmed
- 24323870
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00827273981591214
- Year of publication
- 2013
Drugs