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: rs111033614
rs111033614
F8
2 1.000 0.080 X 154928667 missense variant C/T snv 1.1E-05 1.9E-05 0.700 1.000 1 2019 2019
dbSNP: rs137852247
rs137852247
F9
3 0.925 0.080 X 139560852 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs137852435
rs137852435
F8
3 0.925 0.080 X 154931641 missense variant G/A snv 1.7E-05 0.700 1.000 1 2019 2019
dbSNP: rs144072210
rs144072210
VWF
1 12 5996214 missense variant T/C snv 5.6E-04 5.5E-04 0.700 1.000 1 2019 2019
dbSNP: rs149834874
rs149834874
VWF
1 12 5952518 missense variant C/A;G;T snv 4.0E-06; 1.5E-03; 2.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1800382
rs1800382
VWF
1 12 6019222 missense variant C/A;T snv 4.0E-06; 8.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs41276738
rs41276738
VWF
7 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs61749384
rs61749384
VWF
5 0.882 0.080 12 6019502 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs61750095
rs61750095
VWF
1 12 6018965 frameshift variant C/-;CC delins 0.700 1.000 1 2019 2019
dbSNP: rs61750604
rs61750604
VWF
1 12 6016549 missense variant C/G;T snv 8.0E-06; 7.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs62643634
rs62643634
VWF
1 12 6036487 missense variant C/T snv 4.0E-06 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs782158761
rs782158761
F8
2 1.000 0.080 X 154992938 missense variant T/C snv 5.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs121918453
rs121918453
PTPN11
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.700 0
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.700 0
dbSNP: rs397507545
rs397507545
PTPN11
20 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.700 0