Annotation Detail

Information
Associated Genes
GNB3
Associated Variants
GNB3 p.Ser275= (p.S275=) ( ENST00000435982.6, ENST00000229264.8, ENST00000422785.7 )
RGS2 c.*446C>G ( ENST00000235382.7 )
RGS2 c.*446C>T ( ENST00000235382.7 )
AGTR1 c.*86A>C ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 )
RGS2 c.*446C>G ( ENST00000235382.7 )
RGS2 c.*446C>T ( ENST00000235382.7 )
AGTR1 c.*86A>C ( ENST00000349243.8, ENST00000402260.2, ENST00000404754.2, ENST00000418473.7, ENST00000461609.1, ENST00000474935.5, ENST00000475347.5, ENST00000497524.5 )
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
We assessed whether distributions of 3 single nucleotide polymorphisms in genes coding for components of G protein signaling pathways that have been associated with hypertension differ between women with preeclampsia and normotensive pregnant women; the G protein β3 subunit gene (GNB3) C825T polymorphism (rs5443), the angiotensin II type 1 receptor gene (AGTR1) 3'UTR A1166C polymorphism (rs5186), and the regulator of G protein signaling 2 gene (RGS2) 3'UTR C1114G polymorphism (rs4606).
Pubmed
23339167
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.239177013274541
Year of publication
2013
Drugs