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: 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: rs1800789
rs1800789 		1.000 0.040 4 154561591 upstream gene variant G/A snv 0.17
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 2 2009 2013
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: 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: rs1800788
rs1800788 		4 154562762 upstream gene variant C/T snv 0.18
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.800 1.000 1 2011 2011
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: rs1800789
rs1800789 		1.000 0.040 4 154561591 upstream gene variant G/A snv 0.17
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 2 2009 2013
dbSNP: rs1800789
rs1800789 		1.000 0.040 4 154561591 upstream gene variant G/A snv 0.17
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 2 2009 2013
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: 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: 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: 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: rs1800787
rs1800787 		1.000 0.040 4 154562863 upstream gene variant C/T snv 0.17
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs1800787
rs1800787 		1.000 0.040 4 154562863 upstream gene variant C/T snv 0.17
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
dbSNP: rs1800787
rs1800787 		1.000 0.040 4 154562863 upstream gene variant C/T snv 0.17
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs1800788
rs1800788 		4 154562762 upstream gene variant C/T snv 0.18
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs1800788
rs1800788 		4 154562762 upstream gene variant C/T snv 0.18
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs1800790
rs1800790 		0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs1800790
rs1800790 		0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs1800790
rs1800790 		0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
dbSNP: rs2059503
rs2059503 		4 154572267 downstream gene variant A/T snv 0.14
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011