F9, coagulation factor IX, 2158

N. diseases: 276; N. variants: 99
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: rs137852228
rs137852228 		0.925 0.080 X 139537145 missense variant G/A snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852238
rs137852238 		0.925 0.080 X 139551113 missense variant G/A snv 5.5E-06 9.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852247
rs137852247 		0.925 0.080 X 139560852 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852249
rs137852249 		0.882 0.080 X 139561566 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852254
rs137852254 		0.882 0.080 X 139561710 missense variant C/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852257
rs137852257 		0.925 0.080 X 139561754 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs137852259
rs137852259 		0.925 0.080 X 139561821 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs387906475
rs387906475 		0.882 0.080 X 139530843 missense variant G/A snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1989 1989
dbSNP: rs772061412
rs772061412 		0.925 0.080 X 139561664 missense variant C/G snv 5.5E-06
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011