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: 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: 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: 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: 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: 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: rs1800787
rs1800787 		1.000 0.040 4 154562863 upstream gene variant C/T snv 0.17
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800789
rs1800789 		1.000 0.040 4 154561591 upstream gene variant G/A snv 0.17
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800790
rs1800790 		0.851 0.200 4 154562556 upstream gene variant G/A snv 0.15
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
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: 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: 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