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: 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: rs3136441
rs3136441
11 46721697 intron variant T/C snv 0.13
High density lipoprotein measurement
0.800 1.000 4 2010 2019
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: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.720 1.000 3 2015 2016
dbSNP: rs1799963
rs1799963
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
THROMBOPHILIA DUE TO THROMBIN DEFECT
0.700 1.000 14 1986 2013
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: rs1799963
rs1799963
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-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 2 1998 2009
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: 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
dbSNP: rs1799963
rs1799963
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1799963
rs1799963
0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism
Respiratory Tract Diseases; Cardiovascular Diseases 0.700 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
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs3136457
rs3136457
11 46724708 intron variant G/C snv 0.13
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: rs5896
rs5896
0.882 0.160 11 46723453 missense variant C/G;T snv 0.21
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
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: rs61884307
rs61884307
1.000 0.040 11 46733838 intron variant G/C snv 6.5E-02
Child Development Disorders, Pervasive
Mental Disorders 0.700 1.000 1 2017 2017