rs61755997, NOTCH1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aortic Valve Disease 1
CUI: C3887892
Disease: Aortic Valve Disease 1
25 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.700 0
Bicuspid aortic valve
CUI: C0149630
Disease: Bicuspid aortic valve
23 0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04 0.010 1.000 1 2006 2006