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: rs6054
rs6054 		1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
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: rs765808222
rs765808222 		4 154569614 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0028259
Disease: Nodule
Nodule 		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: rs772014512
rs772014512 		0.925 0.080 4 154567772 missense variant C/T snv 4.8E-05 1.4E-05
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs772014512
rs772014512 		0.925 0.080 4 154567772 missense variant C/T snv 4.8E-05 1.4E-05
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		0.010 1.000 1 2018 2018
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: rs6054
rs6054 		1.000 0.080 4 154568456 missense variant C/T snv 2.4E-03 2.7E-03
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs6056
rs6056 		4 154567669 synonymous variant C/T snv 0.17 0.15
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2009 2011
dbSNP: rs6056
rs6056 		4 154567669 synonymous variant C/T snv 0.17 0.15
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 2 2009 2011
dbSNP: rs6056
rs6056 		4 154567669 synonymous variant C/T snv 0.17 0.15
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 2 2009 2011
dbSNP: rs6058
rs6058 		4 154569192 synonymous variant G/T snv 5.2E-03 2.1E-02
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs6058
rs6058 		4 154569192 synonymous variant G/T snv 5.2E-03 2.1E-02
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs6058
rs6058 		4 154569192 synonymous variant G/T snv 5.2E-03 2.1E-02
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
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: 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
dbSNP: rs2227401
rs2227401 		4 154565229 3 prime UTR variant C/T snv 0.17 0.17
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2017 2017