rs6054

This is a variant in the FGB gene that changes a proline to an leucine.

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GWAS Catalog Trait Associations (23)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

circulating fibrinogen levels

de Vries PS et al. “A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.” Human Molecular Genetics 25(2):358-70 (2016)
Allele T
OR 0.12
p 2.0e-53
N 120,246
Meta-analysisLarge GWAS
European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.14
p 2.0e-30
N 1,320,016
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.11
p 4.0e-13
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.10
p 2.0e-10
N 480,086
Large GWAS
multi-ancestry
Liu DJ et al. “Exome-wide association study of plasma lipids in >300,000 individuals.” Nature Genetics 49(12):1758-1766 (2017)
Allele T
OR 0.15
p 1.0e-11
N 237,050
Large GWAS
European

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.16
p 5.0e-29
N 1,320,016
Large GWAS
European

level of fibrinogen alpha chain in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.40
p 7.0e-27
N 47,745
Large GWAS
European

low density lipoprotein cholesterol measurement

Klimentidis YC et al. “Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.” Diabetes 69(10):2194-2205 (2020)
Allele C
OR 0.14
p 6.0e-26
N 431,167
Major Consortium StudyLarge GWAS
European
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.12
p 4.0e-23
N 1,320,016
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele C
OR 0.10
p 2.0e-10
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.09
p 9.0e-9
N 416,487
Large GWAS
multi-ancestry

level of protein BRICK1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.35
p 2.0e-19
N 47,745
Large GWAS
European

triglyceride measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele T
OR 0.12
p 9.0e-19
N 1,320,016
Large GWAS
European
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.13
p 2.0e-15
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.10
p 4.0e-11
N 455,659
Large GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.09
p 2.0e-12
N 394,642
Large GWAS
European

level of protein S100-A16 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.36
p 1.0e-18
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
12 submitters11 publications

Abnormal bleeding; Afibrinogenemia; Congenital afibrinogenemia; FGB-related disorder; Familial dysfibrinogenemia; Hypofibrinogenemia; Thrombocytopenia; Thrombus; not specified

View on ClinVar →

About FGB

The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]

View all FGB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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