FGB, fibrinogen beta chain, 2244

N. diseases: 95; N. variants: 30
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: rs150768229
rs150768229 		4 154567149 intron variant A/C snv 9.5E-03
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2016 2016
dbSNP: rs606231223
rs606231223 		1.000 0.080 4 154569320 intron variant C/T snv
CUI: C3463916
Disease: Complement Factor I (C3 inactivator) deficiency
Complement Factor I (C3 inactivator) deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases 0.700 0
dbSNP: rs121909625
rs121909625 		0.925 0.080 4 154565832 stop gained C/T snv 1.2E-05 5.6E-05
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.700 1.000 1 2019 2019
dbSNP: rs894077860
rs894077860 		0.925 0.080 4 154569660 stop gained C/T snv
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.010 1.000 1 2013 2013
dbSNP: rs894077860
rs894077860 		0.925 0.080 4 154569660 stop gained C/T snv
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs121909625
rs121909625 		0.925 0.080 4 154565832 stop gained C/T snv 1.2E-05 5.6E-05
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121909621
rs121909621 		0.925 0.120 4 154569703 missense variant T/G snv
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 2000 2015
dbSNP: rs121909622
rs121909622 		0.925 0.120 4 154570463 missense variant G/A snv
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 2000 2015
dbSNP: rs121909623
rs121909623 		1.000 0.080 4 154567688 missense variant C/T snv 4.0E-06
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 2000 2015
dbSNP: rs121909624
rs121909624 		1.000 0.080 4 154567707 missense variant T/A;C snv
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 4 2000 2015
dbSNP: rs6054
rs6054 		1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2011 2016
dbSNP: rs750593479
rs750593479 		1.000 0.080 4 154565881 missense variant C/T snv 8.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2016 2016
dbSNP: rs121909616
rs121909616 		1.000 4 154565823 missense variant C/T snv
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.700 1.000 1 2019 2019
dbSNP: rs121909620
rs121909620 		1.000 0.080 4 154565985 missense variant G/A snv
CUI: C0272350
Disease: Dysfibrinogenemia, Congenital
Dysfibrinogenemia, Congenital 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 1992 1992
dbSNP: rs1317589749
rs1317589749 		0.925 0.080 4 154570471 missense variant T/A snv 4.0E-06
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.010 1.000 1 2015 2015
dbSNP: rs1317589749
rs1317589749 		0.925 0.080 4 154570471 missense variant T/A snv 4.0E-06
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4220
rs4220 		0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4220
rs4220 		0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
dbSNP: rs4220
rs4220 		0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4220
rs4220 		0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs4220
rs4220 		0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs4220
rs4220 		0.925 0.080 4 154570607 missense variant G/A snv 0.17 0.15
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6054
rs6054 		1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs6054
rs6054 		1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs6054
rs6054 		1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019