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: rs2273061
rs2273061
JAG1
1.000 0.080 20 10658895 intron variant G/A snv 0.46
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 1.000 1 2011 2011
dbSNP: rs2273061
rs2273061
JAG1
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
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: rs876660980
rs876660980
JAG1
1.000 0.120 20 10656450 stop gained G/A;C snv 4.0E-06
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 3 1998 2015
dbSNP: rs1437309558
rs1437309558
JAG1
1.000 0.120 20 10642587 stop gained G/A snv 4.0E-06
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 2 1998 2015
dbSNP: rs372984801
rs372984801
JAG1
1.000 0.120 20 10641155 stop gained G/A;T snv 2.4E-05
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 2 1999 2015
dbSNP: rs1051419
rs1051419
JAG1
1.000 0.120 20 10639738 stop gained A/C;G snv 0.65
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.010 1.000 1 2015 2015
dbSNP: rs1131695
rs1131695
JAG1
1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.010 1.000 1 2018 2018
dbSNP: rs1568791694
rs1568791694
JAG1
1.000 0.120 20 10641147 stop gained -/AAGGCTC delins
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.700 1.000 1 2015 2015
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: rs533306015
rs533306015
JAG1
1.000 0.120 20 10643818 stop gained G/A;T snv 1.6E-05
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs863223649
rs863223649
JAG1
1.000 0.120 20 10652227 stop gained G/A snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs886043603
rs886043603
JAG1
1.000 0.120 20 10652513 stop gained G/A snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 0
dbSNP: rs886043606
rs886043606
JAG1
1.000 0.120 20 10663963 stop gained G/A 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: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 1.000 17 1997 2015
dbSNP: rs1032920906
rs1032920906
JAG1
1.000 0.120 20 10672702 missense variant G/C snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 14 1997 2013