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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.050 1.000 5 1999 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: 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: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		Cardiovascular Diseases 0.040 1.000 4 1999 2015
dbSNP: rs1183194405
rs1183194405 		0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.030 1.000 3 1999 2008
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.030 1.000 3 1999 2008
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: rs1183194405
rs1183194405 		0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 1999 2018
dbSNP: rs1183194405
rs1183194405 		0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.020 1.000 2 1999 2007
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 1999 2005
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 0.500 2 1999 2015
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 1999 2015
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 1999 2018
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 1999 2018
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 0.500 2 1999 2003
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 1999 2018
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C1096458
Disease: Vascular occlusion
Vascular occlusion 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0003838
Disease: Arterial Occlusive Diseases
Arterial Occlusive Diseases 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C3805092
Disease: Methylenetetrahydrofolate reductase gene mutation
Methylenetetrahydrofolate reductase gene mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999
dbSNP: rs552953108
rs552953108 		0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 1999 1999
dbSNP: rs899127658
rs899127658 		0.547 0.720 11 46739084 missense variant G/A;C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 1999 1999