NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Bicuspid aortic valve ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs557319054
rs557319054 		1.000 0.040 9 136502086 missense variant G/A;T snv 8.1E-06; 1.2E-05
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61751489
rs61751489 		1.000 0.040 9 136496886 missense variant C/T snv 3.1E-02 1.8E-02
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61755997
rs61755997 		0.925 0.080 9 136515599 missense variant G/A snv 1.5E-04 2.0E-04
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.010 1.000 1 2006 2006