NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Aortic valve calcification ×
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: rs761508282
rs761508282 		1.000 0.080 9 136508288 missense variant G/C snv 8.1E-06 2.1E-05
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification 		Nutritional and Metabolic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013