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: rs1060501349
rs1060501349 		1.000 0.120 20 10641536 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: 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: 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: rs1060501352
rs1060501352 		1.000 0.120 20 10641532 stop gained 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: 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: 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: 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: rs1555829037
rs1555829037 		1.000 0.120 20 10652205 frameshift variant G/- 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: 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: 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: 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: rs1568792286
rs1568792286 		1.000 0.120 20 10641825 frameshift variant CA/- 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: rs1568793309
rs1568793309 		0.882 0.120 20 10643851 frameshift variant G/- 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: 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: rs1568795820
rs1568795820 		1.000 0.120 20 10648024 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: rs1568796241
rs1568796241 		1.000 0.120 20 10648670 frameshift variant TGA/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: 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: 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: rs533306015
rs533306015 		1.000 0.120 20 10643818 stop gained G/A;T snv 1.6E-05
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
dbSNP: rs769531968
rs769531968 		0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 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: rs797044956
rs797044956 		1.000 0.120 20 10652548 missense variant G/A 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: rs863223649
rs863223649 		1.000 0.120 20 10652227 stop gained G/A 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: rs876660978
rs876660978 		1.000 0.120 20 10658468 frameshift variant CT/- 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