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: rs1375894900
rs1375894900 		1.000 0.080 X 154930696 frameshift variant TTCT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1557278778
rs1557278778 		1.000 0.080 X 154931055 frameshift variant TT/- del
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906431
rs387906431 		1.000 0.080 X 154966617 frameshift variant CATT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906433
rs387906433 		1.000 0.080 X 154999544 frameshift variant TT/-;TTT delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906434
rs387906434 		1.000 0.080 X 154999532 frameshift variant AACA/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906435
rs387906435 		1.000 0.080 X 154996996 frameshift variant AC/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906436
rs387906436 		1.000 0.080 X 154984785 frameshift variant CT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906437
rs387906437 		1.000 0.080 X 154969491 frameshift variant A/- del
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906438
rs387906438 		1.000 0.080 X 154969433 frameshift variant C/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906439
rs387906439 		1.000 0.080 X 154969397 frameshift variant C/- del
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906440
rs387906440 		1.000 0.080 X 154966618 frameshift variant TC/- del
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906441
rs387906441 		1.000 0.080 X 154966499 frameshift variant TT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906442
rs387906442 		1.000 0.080 X 154966120 frameshift variant C/- del
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906445
rs387906445 		1.000 0.080 X 154957112 frameshift variant -/C delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906447
rs387906447 		1.000 0.080 X 154930845 frameshift variant T/-;TT delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906448
rs387906448 		1.000 0.080 X 154930827 frameshift variant CT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906449
rs387906449 		1.000 0.080 X 154930241 frameshift variant TT/-;TTT delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906450
rs387906450 		0.925 0.080 X 154930153 frameshift variant T/-;TT delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906451
rs387906451 		1.000 0.080 X 154930098 frameshift variant G/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906452
rs387906452 		1.000 0.080 X 154929666 frameshift variant ATCT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906453
rs387906453 		1.000 0.080 X 154929490 frameshift variant AAGAG/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906454
rs387906454 		1.000 0.080 X 154929459 frameshift variant TTCT/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906455
rs387906455 		1.000 0.080 X 154929411 frameshift variant T/-;TT delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906456
rs387906456 		1.000 0.080 X 154928932 frameshift variant G/- delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs387906458
rs387906458 		1.000 0.080 X 154904488 frameshift variant -/A delins
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0