Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 c.-51-735C>T ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Carotid Atherosclerosis
Source Database
DisGeNET
Description
In patients on dialysis the risk alleles of G894T and T-786C polymorphisms of the eNOS gene are associated with carotid atherosclerosis.
Pubmed
17586410
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00609127331760558
Year of publication
2007
Drugs