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: rs2273061
rs2273061
JAG1
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
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: rs863223648
rs863223648
JAG1
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: rs1060501347
rs1060501347
JAG1
1.000 0.120 20 10649102 frameshift variant -/A delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs1060501349
rs1060501349
JAG1
1.000 0.120 20 10641536 frameshift variant T/- delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs1060501350
rs1060501350
JAG1
1.000 0.120 20 10641688 stop gained C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs1060501351
rs1060501351
JAG1
1.000 0.120 20 10658619 stop gained A/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs1060501352
rs1060501352
JAG1
1.000 0.120 20 10641532 stop gained G/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs121918351
rs121918351
JAG1
0.882 0.240 20 10658611 missense variant C/T snv
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.700 0
dbSNP: rs121918351
rs121918351
JAG1
0.882 0.240 20 10658611 missense variant C/T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
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