NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Adams-Oliver syndrome 1 ×
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: rs587777734
rs587777734 		0.925 0.120 9 136499229 missense variant C/T snv
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736 		0.882 0.240 9 136517908 missense variant A/G snv
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs587781259
rs587781259 		0.925 0.120 9 136505409 missense variant C/T snv
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014