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: 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: rs1883801
rs1883801 		20 10667031 intron variant A/G snv 0.14
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
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: rs2273061
rs2273061 		1.000 0.080 20 10658895 intron variant G/A snv 0.46
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2010 2010
dbSNP: rs2273061
rs2273061 		1.000 0.080 20 10658895 intron variant G/A snv 0.46
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2010 2010
dbSNP: rs3790160
rs3790160 		20 10659340 intron variant T/C snv 0.54
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.700 1.000 1 2012 2012
dbSNP: rs3790160
rs3790160 		20 10659340 intron variant T/C snv 0.54
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2012 2012
dbSNP: rs6040063
rs6040063 		20 10660229 intron variant A/G snv 0.54
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
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: 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: rs863223648
rs863223648 		1.000 20 10663962 splice donor variant C/T snv
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome 		0.700 1.000 1 2018 2018
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: C1837098
Disease: Easy fatigability
Easy fatigability 		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: 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: 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: 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: 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: 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: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular 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: rs28939668
rs28939668 		0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0266258
Disease: Congenital absence of liver
Congenital absence of liver 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2003 2003
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