NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Flexion contracture ×
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: rs771237928
rs771237928 		0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0