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: 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: 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: 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: 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: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.700 1.000 14 1986 2013
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: rs121918480
rs121918480 		0.925 0.080 11 46739341 missense variant G/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: rs121918481
rs121918481 		0.925 0.080 11 46728004 missense variant T/C 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: rs121918482
rs121918482 		1.000 0.080 11 46728157 missense variant G/A 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: 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: rs62623459
rs62623459 		1.000 0.080 11 46725897 missense variant G/A snv 1.1E-03 1.4E-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 12 1983 2004
dbSNP: rs754231232
rs754231232 		1.000 0.080 11 46726564 missense variant G/A 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: 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: 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: 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: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.730 1.000 8 2012 2019
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: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.810 1.000 6 2001 2016
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
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