Source: CURATED

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: rs137852358
rs137852358
F8
0.882 0.080 X 154861758 missense variant C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.810 1.000 2 2010 2013
dbSNP: rs137852249
rs137852249
F9
0.882 0.080 X 139561566 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 1 2019 2019
dbSNP: rs137852254
rs137852254
F9
0.882 0.080 X 139561710 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 1 2019 2019
dbSNP: rs111033613
rs111033613
F8
0.925 0.080 X 154928668 missense variant G/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852403
rs137852403
F8
0.925 0.080 X 154969438 missense variant C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.810 1.000 22 1989 2013
dbSNP: rs137852405
rs137852405
F8
0.925 0.080 X 154969405 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852406
rs137852406
F8
0.925 0.080 X 154969400 missense variant T/C snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.810 1.000 22 1989 2014
dbSNP: rs137852414
rs137852414
F8
0.925 0.080 X 154961120 stop gained C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852416
rs137852416
F8
0.925 0.080 X 154957073 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852428
rs137852428
F8
0.925 0.080 X 154953961 missense variant G/A snv 2.2E-05 9.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.810 1.000 22 1989 2013
dbSNP: rs137852436
rs137852436
F8
0.925 0.080 X 154931623 missense variant C/T snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852442
rs137852442
F8
0.925 0.080 X 154904998 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.810 1.000 22 1989 2013
dbSNP: rs137852459
rs137852459
F8
0.925 0.080 X 154896135 missense variant T/C snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852461
rs137852461
F8
0.925 0.080 X 154863151 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852464
rs137852464
F8
0.925 0.080 X 154863125 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852465
rs137852465
F8
0.925 0.080 X 154863124 missense variant C/A;T snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852469
rs137852469
F8
0.925 0.080 X 154860588 missense variant C/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs137852472
rs137852472
F8
0.925 0.080 X 154837697 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 22 1989 2013
dbSNP: rs1290383918
rs1290383918
F8
0.925 0.080 X 154904505 missense variant C/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs137852412
rs137852412
F8
0.925 0.080 X 154961137 missense variant T/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs137852435
rs137852435
F8
0.925 0.080 X 154931641 missense variant G/A snv 1.7E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 20 1989 2002
dbSNP: rs1490417405
rs1490417405
F8
0.925 0.080 X 154903950 missense variant C/T snv 9.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 20 1989 2002
dbSNP: rs28933675
rs28933675
F8
0.925 0.080 X 154904867 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 20 1989 2002
dbSNP: rs28935499
rs28935499
F8
0.925 0.080 X 154966525 missense variant C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.800 1.000 20 1989 2002
dbSNP: rs782127226
rs782127226
F8
0.925 0.080 X 154928962 missense variant C/A snv 4.4E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002