Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501347
rs1060501347
JAG1
1 1.000 0.120 20 10649102 frameshift variant -/A delins 0.700 0
dbSNP: rs1060501349
rs1060501349
JAG1
1 1.000 0.120 20 10641536 frameshift variant T/- delins 0.700 0
dbSNP: rs1060501350
rs1060501350
JAG1
1 1.000 0.120 20 10641688 stop gained C/T snv 0.700 0
dbSNP: rs1060501351
rs1060501351
JAG1
1 1.000 0.120 20 10658619 stop gained A/T snv 0.700 0
dbSNP: rs1060501352
rs1060501352
JAG1
1 1.000 0.120 20 10641532 stop gained G/T snv 0.700 0
dbSNP: rs1294950721
rs1294950721
JAG1
27 0.807 0.360 20 10645355 splice donor variant C/A;T snv 7.0E-06 0.700 0
dbSNP: rs1555827729
rs1555827729
JAG1
1 1.000 0.120 20 10641194 frameshift variant -/A delins 0.700 0
dbSNP: rs1555828546
rs1555828546
JAG1
1 1.000 0.120 20 10647966 frameshift variant -/G delins 0.700 0
dbSNP: rs1555829037
rs1555829037
JAG1
1 1.000 0.120 20 10652205 frameshift variant G/- del 0.700 0
dbSNP: rs1555829660
rs1555829660
JAG1
1 1.000 0.120 20 10658528 missense variant A/G snv 0.700 0
dbSNP: rs1555830929
rs1555830929
JAG1
1 1.000 0.120 20 10672738 frameshift variant C/- del 0.700 0
dbSNP: rs1568791920
rs1568791920
JAG1
1 1.000 0.120 20 10641459 splice donor variant C/G snv 0.700 0
dbSNP: rs1568792286
rs1568792286
JAG1
1 1.000 0.120 20 10641825 frameshift variant CA/- delins 0.700 0
dbSNP: rs1568793309
rs1568793309
JAG1
3 0.882 0.120 20 10643851 frameshift variant G/- del 0.700 0
dbSNP: rs1568794128
rs1568794128
JAG1
1 1.000 0.120 20 10645196 frameshift variant -/C delins 0.700 0
dbSNP: rs1568795820
rs1568795820
JAG1
1 1.000 0.120 20 10648024 frameshift variant G/- delins 0.700 0
dbSNP: rs1568796241
rs1568796241
JAG1
1 1.000 0.120 20 10648670 frameshift variant TGA/G delins 0.700 0
dbSNP: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.700 0
dbSNP: rs35615084
rs35615084
JAG1 ; MIR6870
1 1.000 0.120 20 10650275 frameshift variant -/G delins 0.700 0
dbSNP: rs533306015
rs533306015
JAG1
1 1.000 0.120 20 10643818 stop gained G/A;T snv 1.6E-05 0.700 0
dbSNP: rs566563238
rs566563238
JAG1
1 1.000 0.120 20 10645391 missense variant C/T snv 0.700 0
dbSNP: rs769531968
rs769531968
JAG1
2 0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs797044956
rs797044956
JAG1
1 1.000 0.120 20 10652548 missense variant G/A snv 0.700 0
dbSNP: rs863223649
rs863223649
JAG1
1 1.000 0.120 20 10652227 stop gained G/A snv 0.700 0
dbSNP: rs876660978
rs876660978
JAG1
1 1.000 0.120 20 10658468 frameshift variant CT/- delins 0.700 0