Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
rs1800541
rs3087459
EDN1 p.Glu106= (p.E106=) ( ENST00000379375.6 )
NOS3 c.-52+1009A>C ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-52+1009A>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
rs1800541
rs3087459
EDN1 p.Glu106= (p.E106=) ( ENST00000379375.6 )
NOS3 c.-52+1009A>C ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-52+1009A>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 c.-51-762C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Acute coronary syndrome
Source Database
DisGeNET
Description
Six polymorphisms (rs1799983, rs2070744, rs1800783, rs3087459, rs1800541, and rs5369) of eNOS and EDN1 genes were analyzed by 5' exonuclease TaqMan genotyping assays in a group of 452 patients with ACS and 283 healthy controls.
Pubmed
24035903
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0398347369355895
Year of publication
2013
Drugs