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: 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: 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: rs886039393
rs886039393 		1.000 0.120 20 10645369 frameshift variant TTTCC/- 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: rs886043603
rs886043603 		1.000 0.120 20 10652513 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: rs886043606
rs886043606 		1.000 0.120 20 10663963 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: 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: rs930247415
rs930247415 		1.000 0.120 20 10672709 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: 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: 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: rs1032920906
rs1032920906 		1.000 0.120 20 10672702 missense variant G/C 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: rs121918350
rs121918350 		1.000 0.120 20 10658612 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 0.800 1.000 14 1997 2013
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: rs1282498658
rs1282498658 		1.000 0.120 20 10672721 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 1.000 14 1997 2013
dbSNP: rs1555829676
rs1555829676 		1.000 0.120 20 10658674 missense variant G/C 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: 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: 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: 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: 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: rs876660980
rs876660980 		1.000 0.120 20 10656450 stop gained G/A;C snv 4.0E-06
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 3 1998 2015
dbSNP: rs1437309558
rs1437309558 		1.000 0.120 20 10642587 stop gained G/A snv 4.0E-06
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 1.000 2 1998 2015
dbSNP: rs372984801
rs372984801 		1.000 0.120 20 10641155 stop gained G/A;T snv 2.4E-05
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 1999 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