Annotation Detail

Information
Associated Genes
NOS3
Associated Variants
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Ala666= (p.A666=) ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Ala666= (p.A666=) ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Val827Met (p.V827M) ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
NOS3 p.Ala666= (p.A666=) ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Ala666= (p.A666=) ( ENST00000297494.8, ENST00000461406.5 )
NOS3 p.Val827Met (p.V827M) ( ENST00000297494.8, ENST00000461406.5 )
Associated Disease
Ischemic stroke
Source Database
DisGeNET
Description
Screening of the NOS3 gene identifies the variants 894G/T, 1998C/G and 2479G/A to be associated with acute onset ischemic stroke in young Asian Indians.
Pubmed
24986538
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0152443520982152
Year of publication
2014
Drugs