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: rs2059503
rs2059503 		4 154572267 downstream gene variant A/T snv 0.14
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs2059503
rs2059503 		4 154572267 downstream gene variant A/T snv 0.14
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
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
dbSNP: rs2227421
rs2227421 		4 154571072 3 prime UTR variant A/C snv 0.26
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs2227421
rs2227421 		4 154571072 3 prime UTR variant A/C snv 0.26
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
dbSNP: rs2227421
rs2227421 		4 154571072 3 prime UTR variant A/C snv 0.26
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: 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: 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: 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
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: 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: 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: 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: 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: 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
dbSNP: rs1800790
rs1800790 		0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2013 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: 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