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: rs137852276
rs137852276
F9
1.000 0.080 X 139561917 missense variant G/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852277
rs137852277
F9
1.000 0.080 X 139561916 missense variant A/G snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852278
rs137852278
F9
1.000 0.080 X 139561913 missense variant G/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852279
rs137852279
F9
1.000 0.080 X 139561557 missense variant A/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852280
rs137852280
F9
1.000 0.080 X 139561941 missense variant T/A;G snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852281
rs137852281
F9
1.000 0.080 X 139561874 missense variant G/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs267606792
rs267606792
F9
1.000 0.080 X 139560772 missense variant G/C snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 1.000 2 2012 2013
dbSNP: rs137852241
rs137852241
F9
1.000 0.080 X 139551218 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 0
dbSNP: rs137852247
rs137852247
F9
0.925 0.080 X 139560852 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 0
dbSNP: rs137852257
rs137852257
F9
0.925 0.080 X 139561754 missense variant G/A snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.800 0
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: 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: rs387906482
rs387906482
F9
1.000 0.080 X 139561716 missense variant T/C snv 9.4E-06
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.710 1.000 1 2000 2000
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: rs137852358
rs137852358
F8
0.882 0.080 X 154861758 missense variant C/A;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019
dbSNP: rs137852360
rs137852360
F8
0.925 0.080 X 154837676 missense variant C/A;G;T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019
dbSNP: rs137852394
rs137852394
F8
0.925 0.080 X 154992996 missense variant C/T snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019
dbSNP: rs137852405
rs137852405
F8
0.925 0.080 X 154969405 missense variant A/G snv
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019
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: rs137852416
rs137852416
F8
0.925 0.080 X 154957073 missense variant G/A 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: rs137852428
rs137852428
F8
0.925 0.080 X 154953961 missense variant G/A snv 2.2E-05 9.5E-06
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.700 1.000 1 2019 2019