JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
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: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0684219
Disease: Myokymia
Myokymia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0012569
Disease: Diplopia
Diplopia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C4025573
Disease: Increased muscle fatiguability
Increased muscle fatiguability 		0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
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: 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: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.700 0
dbSNP: rs1568793309
rs1568793309 		0.882 0.120 20 10643851 frameshift variant G/- del
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		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