Annotation Detail

Information
Associated Genes
CYP11B2
Associated Variants
GNB3 p.Ser275= (p.S275=) ( ENST00000435982.6, ENST00000229264.8, ENST00000422785.7 )
CYP11B2 p.Tyr275= (p.Y275=) ( ENST00000323110.2 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 )
CYP11B2 p.Tyr275= (p.Y275=) ( ENST00000323110.2 )
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
In addition to these polymorphisms, the T(-344)C polymorphism in the promoter of the aldosterone synthase gene (CYP11B2) and the C825T polymorphism of the G-protein beta3 subunit gene (GNB3) are considered candidates for the genetic risk of salt-sensitive hypertension.
Pubmed
12924618
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.143123487147592
Year of publication
2003
Drugs