JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Disease: Alagille 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: rs1060501347
rs1060501347 		1.000 0.120 20 10649102 frameshift variant -/A delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555827729
rs1555827729 		1.000 0.120 20 10641194 frameshift variant -/A delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs878853752
rs878853752 		1.000 0.120 20 10641480 frameshift variant -/A delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1568794128
rs1568794128 		1.000 0.120 20 10645196 frameshift variant -/C delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555828546
rs1555828546 		1.000 0.120 20 10647966 frameshift variant -/G delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs35615084
rs35615084 		1.000 0.120 20 10650275 frameshift variant -/G delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886039887
rs886039887 		1.000 0.120 20 10644864 frameshift variant -/T delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918352
rs121918352 		1.000 0.120 20 10672978 missense variant A/G snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.800 1.000 14 1997 2013
dbSNP: rs1555829660
rs1555829660 		1.000 0.120 20 10658528 missense variant A/G snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1060501351
rs1060501351 		1.000 0.120 20 10658619 stop gained A/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs727504412
rs727504412 		0.925 0.120 20 10645245 frameshift variant ACTG/- delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 5 1997 2015
dbSNP: rs1555827653
rs1555827653 		1.000 0.120 20 10640815 frameshift variant ACTT/- delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 4 1999 2016
dbSNP: rs876660981
rs876660981 		1.000 0.120 20 10648632 frameshift variant AG/- del
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1555827769
rs1555827769 		1.000 0.120 20 10641588 frameshift variant AGGGGTGGACGAAGC/TGCCCTGG delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1555830929
rs1555830929 		1.000 0.120 20 10672738 frameshift variant C/- del
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs876661122
rs876661122 		1.000 0.120 20 10641671 missense variant C/G snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 14 1997 2013
dbSNP: rs1568791920
rs1568791920 		1.000 0.120 20 10641459 splice donor variant C/G snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs886044704
rs886044704 		1.000 0.120 20 10645351 splice region variant C/G;T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121918351
rs121918351 		0.882 0.240 20 10658611 missense variant C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.800 1.000 17 1997 2015
dbSNP: rs876661123
rs876661123 		1.000 0.120 20 10672991 missense variant C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 14 1997 2013
dbSNP: rs863223650
rs863223650 		1.000 0.120 20 10650325 missense variant C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 2 2000 2012
dbSNP: rs1060501350
rs1060501350 		1.000 0.120 20 10641688 stop gained C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs28939668
rs28939668 		0.807 0.200 20 10652533 missense variant C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs566563238
rs566563238 		1.000 0.120 20 10645391 missense variant C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0