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: 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: 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: 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: 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: 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: 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: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.040 1.000 4 2012 2020
dbSNP: rs3136441
rs3136441 		11 46721697 intron variant T/C snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2010 2019
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.040 1.000 4 2002 2009
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.040 1.000 4 2002 2016
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation 		Hemic and Lymphatic Diseases 0.040 0.750 4 1999 2018
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: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.040 1.000 4 1999 2013
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.040 1.000 4 1999 2017
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 0.750 4 2002 2010
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		Cardiovascular Diseases 0.040 1.000 4 1999 2015
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.720 1.000 3 2015 2016
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.030 0.667 3 1999 2005
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 1999 2016
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.030 1.000 3 2000 2013