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: 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: 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: rs749785846
rs749785846 		0.925 0.160 4 154568469 synonymous variant C/T snv 4.0E-06
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs749785846
rs749785846 		0.925 0.160 4 154568469 synonymous variant C/T snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs750593479
rs750593479 		1.000 0.080 4 154565881 missense variant C/T snv 8.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs761740955
rs761740955 		0.827 0.200 4 154566637 missense variant A/G snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs761740955
rs761740955 		0.827 0.200 4 154566637 missense variant A/G snv 4.0E-06
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs761740955
rs761740955 		0.827 0.200 4 154566637 missense variant A/G snv 4.0E-06
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2017 2017
dbSNP: rs761740955
rs761740955 		0.827 0.200 4 154566637 missense variant A/G snv 4.0E-06
CUI: C2584409
Disease: Prothrombin G20210A mutation
Prothrombin G20210A mutation 		Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs761740955
rs761740955 		0.827 0.200 4 154566637 missense variant A/G snv 4.0E-06
CUI: C1531624
Disease: Cardioembolic stroke
Cardioembolic stroke 		0.010 1.000 1 2017 2017
dbSNP: rs771406104
rs771406104 		1.000 0.080 4 154569191 missense variant T/C snv 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs771406104
rs771406104 		1.000 0.080 4 154569191 missense variant T/C snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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: rs121909621
rs121909621 		0.925 0.120 4 154569703 missense variant T/G 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: rs121909622
rs121909622 		0.925 0.120 4 154570463 missense variant G/A 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: 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: rs606231224
rs606231224 		1.000 0.080 4 154569800 splice donor variant G/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