Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs12625256
rs12625256
JAG1
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
JAG1
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
JAG1
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: rs3790160
rs3790160
JAG1
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
JAG1
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
JAG1
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
JAG1
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
JAG1
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: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.830 1.000 4 2001 2010
dbSNP: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis 		0.010 1.000 1 2003 2003
dbSNP: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		0.010 1.000 1 2003 2003
dbSNP: rs28939668
rs28939668
JAG1
0.807 0.200 20 10652533 missense variant C/T snv
CUI: C0266258
Disease: Congenital absence of liver
Congenital absence of liver 		0.010 1.000 1 2003 2003
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
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
JAG1
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 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
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
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
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
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C3277688
Disease: Progressive forgetfulness
Progressive forgetfulness 		0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0