F8, coagulation factor VIII, 2157

N. diseases: 149; N. variants: 275
Disease: Hemophilia A ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852471
rs137852471 		1.000 0.080 X 154860467 stop gained G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs2228152
rs2228152 		1.000 0.080 X 154931407 stop gained T/A;C snv 4.0E-04
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267606791
rs267606791 		1.000 0.080 X 154902150 stop gained C/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906432
rs387906432 		1.000 0.080 X 155022510 stop gained G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906457
rs387906457 		1.000 0.080 X 154904918 stop gained T/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs111033615
rs111033615 		1.000 0.080 X 154904004 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2013
dbSNP: rs137852403
rs137852403 		0.925 0.080 X 154969438 missense variant C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2013
dbSNP: rs137852406
rs137852406 		0.925 0.080 X 154969400 missense variant T/C snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2014
dbSNP: rs137852410
rs137852410 		1.000 0.080 X 154966654 missense variant C/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2013
dbSNP: rs137852428
rs137852428 		0.925 0.080 X 154953961 missense variant G/A snv 2.2E-05 9.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2013
dbSNP: rs137852431
rs137852431 		1.000 0.080 X 154947854 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2013
dbSNP: rs137852442
rs137852442 		0.925 0.080 X 154904998 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2013
dbSNP: rs28935203
rs28935203 		1.000 0.080 X 154928694 missense variant T/A snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 23 1989 2016
dbSNP: rs111033613
rs111033613 		0.925 0.080 X 154928668 missense variant G/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs111033614
rs111033614 		1.000 0.080 X 154928667 missense variant C/T snv 1.1E-05 1.9E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs111033616
rs111033616 		1.000 0.080 X 154966065 missense variant A/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852402
rs137852402 		1.000 0.080 X 154969444 missense variant T/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852404
rs137852404 		1.000 0.080 X 154969417 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852405
rs137852405 		0.925 0.080 X 154969405 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852407
rs137852407 		1.000 0.080 X 154969360 missense variant A/G;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852413
rs137852413 		1.000 0.080 X 154961131 missense variant A/G snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852415
rs137852415 		1.000 0.080 X 154957079 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852416
rs137852416 		0.925 0.080 X 154957073 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852417
rs137852417 		1.000 0.080 X 154957061 missense variant G/A;C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013
dbSNP: rs137852418
rs137852418 		1.000 0.080 X 154957060 missense variant C/G;T snv 1.1E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2013