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: rs727504412
rs727504412
JAG1
3 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
dbSNP: rs1568791694
rs1568791694
JAG1
1 1.000 0.120 20 10641147 stop gained -/AAGGCTC delins 0.700 1.000 1 2015 2015
dbSNP: rs1555827650
rs1555827650
JAG1
1 1.000 0.120 20 10640813 frameshift variant CT/- delins 0.700 0
dbSNP: rs1051419
rs1051419
JAG1
1 1.000 0.120 20 10639738 stop gained A/C;G snv 0.65 0.010 1.000 1 2015 2015
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
dbSNP: rs28939668
rs28939668
JAG1
6 0.807 0.200 20 10652533 missense variant C/T snv 0.010 1.000 1 2009 2009