Annotation Detail
Information
- Associated Genes
- NANOS3
- Associated Variants
-
NOS3 c.-51-762C>T
(
ENST00000297494.8,
ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- Left Ventricular Hypertrophy
- Source Database
- DisGeNET
- Description
- Three NOS3 genetic variants, -T786C (rs2070744), eNOS4a/b and +G894T (rs1799983), were genotyped in two independent case-control studies: the first study consisted of 1061 hypertensive patients with LVH and 1118 hypertensive patients without LVH, and the second sample consisted of 120 patients with LVH and 223 patients without LVH.
- Pubmed
- 19132956
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs