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: rs1189348665
rs1189348665
F8
1.000 0.080 X 154966663 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1208703993
rs1208703993
F8
1.000 0.080 X 154969540 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1281943689
rs1281943689
F8
1.000 0.080 X 154993074 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
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: rs1296842178
rs1296842178
F8
1.000 0.080 X 154997069 missense variant C/T snv 9.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1312347909
rs1312347909
F8
1.000 0.080 X 154997059 missense variant T/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1345538633
rs1345538633
F8
1.000 0.080 X 154965993 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1354815715
rs1354815715
F8
1.000 0.080 X 154956958 missense variant T/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1362305882
rs1362305882
F8
1.000 0.080 X 154966097 missense variant C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1367630608
rs1367630608
F8
1.000 0.080 X 154903923 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs137852411
rs137852411
F8
1.000 0.080 X 154961138 missense variant A/G 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: rs137852423
rs137852423
F8
1.000 0.080 X 154954009 missense variant A/G snv 9.4E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1388356765
rs1388356765
F8
1.000 0.080 X 154993116 stop gained C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs139526001
rs139526001
F8
1.000 0.080 X 154957088 missense variant T/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1401805753
rs1401805753
F8
1.000 0.080 X 154969439 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1433420305
rs1433420305
F8
1.000 0.080 X 154993104 missense variant C/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1441830456
rs1441830456
F8
1.000 0.080 X 154966088 missense variant T/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1450770782
rs1450770782
F8
1.000 0.080 X 154863172 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1455943875
rs1455943875
F8
1.000 0.080 X 154993002 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1460318222
rs1460318222
F8
1.000 0.080 X 154953994 missense variant T/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1464962436
rs1464962436
F8
1.000 0.080 X 154984719 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs1466581271
rs1466581271
F8
1.000 0.080 X 154906448 missense variant A/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs151202877
rs151202877
F8
1.000 0.080 X 154906490 missense variant C/T snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002
dbSNP: rs781954986
rs781954986
F8
1.000 0.080 X 154966679 missense variant C/T snv 1.9E-04 9.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.700 1.000 20 1989 2002