Annotation Detail

Information
Associated Genes
ATP6AP2
Associated Variants
ATP6AP2 MUTATION
ATP6AP2 MUTATION
NC_000017.11:g.63476833T>A
AGT c.-30-3484G>A ( ENST00000679957.1, ENST00000681269.1, ENST00000680783.1, ENST00000679684.1 )
rs2968915
NC_000017.11:g.63476833T>A
AGT c.-30-3484G>A ( ENST00000679684.1, ENST00000679957.1, ENST00000680783.1, ENST00000681269.1 )
rs2968915
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (rs2968915; rs5981008) genes were significantly associated with hypertension in two vascular disease populations of CAD (EUROPA) and cerebrovascular disease (PROGRESS; n = 3571).
Pubmed
21157371
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00508145069940506
Year of publication
2011
Drugs