NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Alagille Syndrome 2 ×
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: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.800 1.000 1 2006 2006
dbSNP: rs1557804111
rs1557804111 		1.000 0.120 1 119920277 stop gained G/A snv
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		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: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0