F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: Hereditary factor II deficiency disease ×
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: rs121918477
rs121918477 		0.925 0.080 11 46726563 missense variant C/T snv 4.0E-06
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918478
rs121918478 		0.925 0.080 11 46728746 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918479
rs121918479 		0.925 0.080 11 46728138 missense variant C/T snv
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918480
rs121918480 		0.925 0.080 11 46739341 missense variant G/T snv
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918481
rs121918481 		0.925 0.080 11 46728004 missense variant T/C snv
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918483
rs121918483 		1.000 0.080 11 46726734 missense variant G/A snv 4.9E-04
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918484
rs121918484 		1.000 0.080 11 46726761 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918485
rs121918485 		1.000 0.080 11 46728139 missense variant G/A snv 4.1E-06
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918486
rs121918486 		1.000 0.080 11 46739324 missense variant C/G snv
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1361766713
rs1361766713 		1.000 0.080 11 46729505 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs143498218
rs143498218 		0.925 0.080 11 46728732 missense variant G/A;C snv 2.4E-05; 8.0E-06
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs387907201
rs387907201 		1.000 0.080 11 46739326 missense variant G/A;T snv
CUI: C0272317
Disease: Hereditary factor II deficiency disease
Hereditary factor II deficiency disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018