rs6050

This is a variant in the FGA gene that changes a threonine to an alanine.

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GWAS Catalog Trait Associations (2)

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

circulating fibrinogen levels

Lovely RS et al. “Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.” Arteriosclerosis, Thrombosis, and Vascular Biology 31(10):2345-52 (2011)

Allele C

OR 0.26

p 9.0e-90

N 3,042

Large GWAS

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)

Allele C

OR 0.01

p 3.0e-24

N 5,314,291

Large GWAS

European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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ClinVar annotation

Pathogenic★☆☆☆

7 submitters4 publications

Congenital afibrinogenemia; Familial visceral amyloidosis, Ostertag type (AMYLD2); Venous thromboembolism, susceptibility to; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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A Genome‐Wide Association Study for Venous Thromboembolism: The Extended Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

AssociationN=11,615Weihong Tang et al.(2013)· Genetic Epidemiology

A large genome-wide association study of venous thromboembolism (VTE) in 9 European ancestry cohorts (4,849 cases total) identified genome-wide significant associations at F5, ABO, F11, and FGG loci. The FGG locus (rs6536024, RR=0.80, p<5.0×10⁻¹³) and F11 locus (rs4253399, RR=1.24, p<5.0×10⁻¹³) showed novel associations with reduced and increased VTE risk respectively. Additional borderline associations (p<5.0×10⁻⁶) were identified near SUSD1 and OTUD7A, representing new candidate genes for VTE.

Traits studied:Deep venous thrombosisPulmonary embolismVenous thromboembolism

PubMed DOI Metascience Observatory

About FGA

This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]