F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
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: rs1183194405
rs1183194405 		0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.020 1.000 2 1996 1999
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 1996 2018
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs757240974
rs757240974 		0.851 0.080 11 46728060 missense variant C/T snv 4.1E-06
CUI: C3203356
Disease: Factor II deficiency
Factor II deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs757240974
rs757240974 		0.851 0.080 11 46728060 missense variant C/T snv 4.1E-06
CUI: C4722227
Disease: Hypoprothrombinemias
Hypoprothrombinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs757240974
rs757240974 		0.851 0.080 11 46728060 missense variant C/T snv 4.1E-06
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.100 0.912 34 1998 2019
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.100 1.000 12 1998 2019
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.050 1.000 5 1998 2013
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1260403
Disease: prothrombin gene mutation
prothrombin gene mutation 		Hemic and Lymphatic Diseases 0.040 1.000 4 1998 2012
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1998 2009
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: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 1998 1998
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0037198
Disease: Sinus Thrombosis, Intracranial
Sinus Thrombosis, Intracranial 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 1998 1998
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.100 0.970 33 1999 2019
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.100 0.947 19 1999 2018
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.100 1.000 15 1999 2019
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.100 1.000 13 1999 2016
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.100 1.000 12 1999 2010
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.090 1.000 9 1999 2015
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.090 1.000 9 1999 2018
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.060 1.000 6 1999 2019