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: 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
dbSNP: rs121918350
rs121918350
JAG1
1.000 0.120 20 10658612 missense variant G/A snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 1.000 14 1997 2013
dbSNP: rs121918352
rs121918352
JAG1
1.000 0.120 20 10672978 missense variant A/G snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.800 1.000 14 1997 2013
dbSNP: rs1282498658
rs1282498658
JAG1
1.000 0.120 20 10672721 missense variant G/A snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 14 1997 2013
dbSNP: rs1555829676
rs1555829676
JAG1
1.000 0.120 20 10658674 missense variant G/C snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 14 1997 2013
dbSNP: rs876661122
rs876661122
JAG1
1.000 0.120 20 10641671 missense variant C/G snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 14 1997 2013
dbSNP: rs876661123
rs876661123
JAG1
1.000 0.120 20 10672991 missense variant C/T snv
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 14 1997 2013
dbSNP: rs727504412
rs727504412
JAG1
0.925 0.120 20 10645245 frameshift variant ACTG/- delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 5 1997 2015
dbSNP: rs1555827653
rs1555827653
JAG1
1.000 0.120 20 10640815 frameshift variant ACTT/- delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 4 1999 2016
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: rs727504412
rs727504412
JAG1
0.925 0.120 20 10645245 frameshift variant ACTG/- delins
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.700 1.000 4 1997 2005
dbSNP: rs727504412
rs727504412
JAG1
0.925 0.120 20 10645245 frameshift variant ACTG/- delins
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.700 1.000 4 1997 2005
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: rs121918353
rs121918353
JAG1
1.000 0.200 20 10656452 missense variant C/T snv
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
Deafness, Congenital Heart Defects, and Posterior Embryotoxon 		0.800 1.000 2 2002 2010
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: rs769531968
rs769531968
JAG1
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 		0.800 1.000 2 2001 2010
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: 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: rs145895196
rs145895196
JAG1
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 		0.010 1.000 1 2013 2013
dbSNP: rs145895196
rs145895196
JAG1
0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs1555827769
rs1555827769
JAG1
1.000 0.120 20 10641588 frameshift variant AGGGGTGGACGAAGC/TGCCCTGG delins
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1 		0.700 1.000 1 2006 2006
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