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: rs137852227
rs137852227
F9
0.925 0.080 X 139537144 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.710 1.000 6 1990 2016
dbSNP: rs137852258
rs137852258
F9
1.000 0.080 X 139561820 stop gained C/G;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852248
rs137852248
F9
1.000 0.080 X 139561565 stop gained C/A;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.710 1.000 1 2012 2012
dbSNP: rs137852414
rs137852414
F8
0.925 0.080 X 154961120 stop gained C/A;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019
dbSNP: rs137852424
rs137852424
F8
0.925 0.080 X 154953991 stop gained G/A;T snv 1.1E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019
dbSNP: rs1556435929
rs1556435929
F9
1.000 0.080 X 139537062 stop gained T/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2018 2018
dbSNP: rs137852223
rs137852223
F9
1.000 0.080 X 139537090 stop gained C/G;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs137852239
rs137852239
F9
1.000 0.080 X 139551196 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs137852244
rs137852244
F9
1.000 0.080 X 139551250 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs137852250
rs137852250
F9
1.000 0.080 X 139561577 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs137852261
rs137852261
F9
1.000 0.080 X 139561835 stop gained C/A;T snv 5.5E-06
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs137852270
rs137852270
F9
1.000 0.080 X 139562054 stop gained A/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs137852272
rs137852272
F9
1.000 0.080 X 139548455 stop gained C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 0
dbSNP: rs387906481
rs387906481
F9
1.000 0.080 X 139530846 missense variant T/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 22 1983 2015
dbSNP: rs1216516070
rs1216516070
F9
1.000 0.080 X 139548387 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 20 1983 2015
dbSNP: rs1222227572
rs1222227572
F9
1.000 0.080 X 139561638 missense variant T/G snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 20 1983 2015
dbSNP: rs1275708479
rs1275708479
F9
1.000 0.080 X 139537049 missense variant G/A;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 20 1983 2015
dbSNP: rs143018900
rs143018900
F9
1.000 0.080 X 139562031 missense variant G/A snv 8.2E-05 6.6E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 20 1983 2015
dbSNP: rs137852249
rs137852249
F9
0.882 0.080 X 139561566 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.810 1.000 6 1989 2018
dbSNP: rs137852233
rs137852233
F9
0.925 0.080 X 139541114 missense variant G/A snv 1.1E-05 3.8E-05
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 5 1989 2013
dbSNP: rs137852237
rs137852237
F9
1.000 0.080 X 139551112 missense variant C/A;T snv 5.5E-06
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.810 1.000 3 2012 2016
dbSNP: rs137852254
rs137852254
F9
0.882 0.080 X 139561710 missense variant C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 3 1991 2012
dbSNP: rs137852226
rs137852226
F9
1.000 0.080 X 139537139 missense variant A/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852228
rs137852228
F9
0.925 0.080 X 139537145 missense variant G/A snv 5.5E-06
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852229
rs137852229
F9
1.000 0.080 X 139537158 missense variant A/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013