Gene: JAG1 ×
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: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.830 1.000 4 2001 2010
dbSNP: rs769531968
rs769531968
JAG1
2 0.925 0.120 20 10643807 missense variant G/A snv 4.0E-06 7.0E-06 0.800 1.000 2 2001 2010
dbSNP: rs121918351
rs121918351
JAG1
3 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0
dbSNP: rs1131695
rs1131695
JAG1
1 1.000 0.080 20 10652589 stop gained G/A;C;T snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs145895196
rs145895196
JAG1
2 0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 0.010 1.000 1 2013 2013