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: rs121918477
rs121918477 		0.925 0.080 11 46726563 missense variant C/T snv 4.0E-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 0.700 0
dbSNP: rs121918478
rs121918478 		0.925 0.080 11 46728746 missense variant C/T snv 8.0E-06 7.0E-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 0.700 0
dbSNP: rs121918479
rs121918479 		0.925 0.080 11 46728138 missense variant C/T 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: rs121918480
rs121918480 		0.925 0.080 11 46739341 missense variant G/T 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: rs121918481
rs121918481 		0.925 0.080 11 46728004 missense variant T/C 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: rs121918482
rs121918482 		1.000 0.080 11 46728157 missense variant G/A snv
CUI: C4016343
Disease: DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II 		0.700 0
dbSNP: rs121918483
rs121918483 		1.000 0.080 11 46726734 missense variant G/A snv 4.9E-04
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: rs121918484
rs121918484 		1.000 0.080 11 46726761 missense variant G/A snv 4.0E-06 1.4E-05
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: rs121918485
rs121918485 		1.000 0.080 11 46728139 missense variant G/A snv 4.1E-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 0.700 0
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: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C3280672
Disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C1856857
Disease: STROKE, ISCHEMIC, SUSCEPTIBILITY TO
STROKE, ISCHEMIC, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1799963
rs1799963 		0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
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: 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: rs387907201
rs387907201 		1.000 0.080 11 46739326 missense variant G/A;T snv
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.700 0
dbSNP: rs62623459
rs62623459 		1.000 0.080 11 46725897 missense variant G/A snv 1.1E-03 1.4E-03
CUI: C3890031
Disease: prothrombin type 3 phenotype
prothrombin type 3 phenotype 		0.700 0
dbSNP: rs1183194405
rs1183194405 		0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2011 2011
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2011 2011
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C2945695
Disease: Limb ischemia
Limb ischemia 		0.010 < 0.001 1 2005 2005
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0524702
Disease: Pulmonary Thromboembolisms
Pulmonary Thromboembolisms 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2002 2002
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C3160845
Disease: PAI-1 4G/5G polymorphism
PAI-1 4G/5G polymorphism 		0.010 < 0.001 1 2011 2011
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C2939465
Disease: Deficiency of glucose-6-phosphate dehydrogenase
Deficiency of glucose-6-phosphate dehydrogenase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1188383936
rs1188383936 		0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009