Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
Associated Disease
Vascular Diseases
Source Database
DisGeNET
Description
The 894TT genotype of 894G>T (Glu298Asp, rs1799983), a polymorphic variant of eNOS, has been associated with several vascular diseases.
Pubmed
23512673
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0186311382166819
Year of publication
2013
Drugs