JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
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: rs727504412
rs727504412 		0.925 0.120 20 10645245 frameshift variant ACTG/- delins
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 4 1997 2005
dbSNP: rs1568791694
rs1568791694 		1.000 0.120 20 10641147 stop gained -/AAGGCTC delins
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555827650
rs1555827650 		1.000 0.120 20 10640813 frameshift variant CT/- delins
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1051419
rs1051419 		1.000 0.120 20 10639738 stop gained A/C;G snv 0.65
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs145895196
rs145895196 		0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs28939668
rs28939668 		0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009