NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Alagille Syndrome ×
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: rs111033632
rs111033632 		0.925 0.120 1 119967555 missense variant C/T snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262793
rs312262793 		1.000 0.120 1 119968224 missense variant A/G snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262794
rs312262794 		1.000 0.120 1 119968161 missense variant G/A snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262795
rs312262795 		1.000 0.120 1 119968194 missense variant G/A snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262798
rs312262798 		0.925 0.120 1 119917763 splice acceptor variant C/T snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262799
rs312262799 		1.000 0.120 1 119967448 missense variant A/G snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262800
rs312262800 		1.000 0.120 1 119949039 frameshift variant TC/- delins
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262801
rs312262801 		1.000 0.120 1 119917685 stop gained G/A;C;T snv 5.2E-05; 1.2E-05
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0