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: rs387906429
rs387906429 		1.000 0.080 X 154991304 intron variant C/T snv 1.9E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852414
rs137852414 		0.925 0.080 X 154961120 stop gained C/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: rs137852426
rs137852426 		1.000 0.080 X 154953983 stop gained C/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: rs137852439
rs137852439 		1.000 0.080 X 154928647 stop gained G/A;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: rs28933668
rs28933668 		1.000 0.080 X 154966522 stop gained 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: rs34371500
rs34371500 		1.000 0.080 X 154969518 stop gained C/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: rs1388356765
rs1388356765 		1.000 0.080 X 154993116 stop gained C/A;T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1989 2002
dbSNP: rs137852355
rs137852355 		1.000 0.080 X 154861759 stop gained 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 2 2011 2013
dbSNP: rs137852373
rs137852373 		1.000 0.080 X 154928623 stop gained C/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 2 2011 2013
dbSNP: rs1060499784
rs1060499784 		1.000 0.080 X 154930646 stop gained C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852354
rs137852354 		1.000 0.080 X 154837677 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: rs137852356
rs137852356 		1.000 0.080 X 154896103 stop gained G/A;T snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852357
rs137852357 		1.000 0.080 X 154863161 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: rs137852361
rs137852361 		1.000 0.080 X 154928677 stop gained G/A;C snv 5.6E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852363
rs137852363 		1.000 0.080 X 154904026 stop gained G/A;T snv 3.3E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852368
rs137852368 		1.000 0.080 X 154966634 stop gained G/A;T snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852372
rs137852372 		1.000 0.080 X 154966077 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: rs137852408
rs137852408 		1.000 0.080 X 154966671 stop gained A/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852421
rs137852421 		1.000 0.080 X 154956983 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: rs137852424
rs137852424 		0.925 0.080 X 154953991 stop gained G/A;T snv 1.1E-05
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852432
rs137852432 		1.000 0.080 X 154947846 stop gained G/C snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852446
rs137852446 		1.000 0.080 X 154904954 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: rs137852448
rs137852448 		1.000 0.080 X 154904434 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: rs137852449
rs137852449 		1.000 0.080 X 154904022 stop gained C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs137852452
rs137852452 		1.000 0.080 X 154903951 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