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: rs1997814
rs1997814 		20 10666023 intron variant T/G snv 0.73
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C4025347
Disease: Weakness of muscles of respiration
Weakness of muscles of respiration 		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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs12625256
rs12625256 		20 10657738 intron variant A/T snv 0.37
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs7267595
rs7267595 		20 10663202 intron variant A/C;T snv 0.55
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs28939668
rs28939668 		0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.830 1.000 4 2001 2010
dbSNP: rs769531968
rs769531968 		0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 2 2001 2010
dbSNP: rs1131695
rs1131695 		1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs145895196
rs145895196 		0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121918351
rs121918351 		0.882 0.240 20 10658611 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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: C0575802
Disease: Small hand
Small hand 		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: 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: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		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: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		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: C0235063
Disease: Respiratory Depression
Respiratory Depression 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs7828
rs7828 		20 10638366 3 prime UTR variant A/C snv 0.27
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		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: 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: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1294950721
rs1294950721 		0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C1836038
Disease: Poor head control
Poor head control 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28939668
rs28939668 		0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		Cardiovascular Diseases 0.010 1.000 1 2003 2003
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