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: 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: rs3136441
rs3136441 		11 46721697 intron variant T/C snv 0.13
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs1183827513
rs1183827513 		11 46739325 missense variant C/T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2070850
rs2070850 		11 46719945 non coding transcript exon variant C/T snv 0.14
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2070850
rs2070850 		11 46719945 non coding transcript exon variant C/T snv 0.14
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3136457
rs3136457 		11 46724708 intron variant G/C snv 0.13
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3136457
rs3136457 		11 46724708 intron variant G/C snv 0.13
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5899
rs5899 		11 46726112 synonymous variant C/T snv 8.6E-03 6.9E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs75185853
rs75185853 		11 46729851 intron variant T/C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs776445885
rs776445885 		11 46728086 synonymous variant C/T snv
CUI: C0018824
Disease: Heart valve disease
Heart valve disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs776445885
rs776445885 		11 46728086 synonymous variant C/T snv
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
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: rs3136447
rs3136447 		1.000 0.040 11 46722818 intron variant T/C snv 0.21
CUI: C2584620
Disease: Thrombophilia, hereditary
Thrombophilia, hereditary 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61884307
rs61884307 		1.000 0.040 11 46733838 intron variant G/C snv 6.5E-02
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs61884307
rs61884307 		1.000 0.040 11 46733838 intron variant G/C snv 6.5E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs762607581
rs762607581 		1.000 0.040 11 46739317 missense variant G/A snv 4.0E-06
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
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: 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: rs3136516
rs3136516 		1.000 0.080 11 46739206 intron variant G/A snv 0.38
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 2 2017 2019