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: rs387906522
rs387906522 		1.000 0.080 11 46723421 frameshift variant -/T ins 4.0E-06
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs780225764
rs780225764 		1.000 0.080 11 46726797 missense variant A/G snv 4.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs780225764
rs780225764 		1.000 0.080 11 46726797 missense variant A/G snv 4.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs776618390
rs776618390 		11 46739353 frameshift variant AT/- del 1.2E-05 7.0E-06
CUI: C4021097
Disease: Reduced prothrombin activity
Reduced prothrombin activity 		0.700 1.000 1 2019 2019
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: rs5896
rs5896 		0.882 0.160 11 46723453 missense variant C/G;T snv 0.21
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5896
rs5896 		0.882 0.160 11 46723453 missense variant C/G;T snv 0.21
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs5896
rs5896 		0.882 0.160 11 46723453 missense variant C/G;T snv 0.21
CUI: C2584620
Disease: Thrombophilia, hereditary
Thrombophilia, hereditary 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5896
rs5896 		0.882 0.160 11 46723453 missense variant C/G;T snv 0.21
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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: 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: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.100 0.895 19 2000 2015
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: rs121918477
rs121918477 		0.925 0.080 11 46726563 missense variant C/T snv 4.0E-06
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 12 1983 2004
dbSNP: rs121918478
rs121918478 		0.925 0.080 11 46728746 missense variant C/T snv 8.0E-06 7.0E-06
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 12 1983 2004
dbSNP: rs121918479
rs121918479 		0.925 0.080 11 46728138 missense variant C/T snv
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 12 1983 2004
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: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.090 0.778 9 2001 2013
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.060 0.833 6 2002 2016
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.050 1.000 5 2000 2016
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.050 1.000 5 1999 2016
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: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.040 1.000 4 2001 2016
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation 		Hemic and Lymphatic Diseases 0.040 0.750 4 2001 2008
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.040 0.750 4 2000 2009