rs148685782

This variant is located in the FGG gene.

GWAS Catalog Trait Associations (10)

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

circulating fibrinogen levels

Allele C
OR 0.22
p 1.0e-87
N 120,246
Meta-analysisLarge GWAS
European

mitochondrial DNA measurement

Allele G
OR 0.21
p 3.0e-14
N 163,372
Large GWAS
multi-ancestry

receptor-type tyrosine-protein kinase flt3 measurement

Allele C
OR 0.32
p 5.0e-12
N 47,745
Large GWAS
European

glycine measurement

Wittemans LBL et al. Assessing the causal association of glycine with risk of cardio-metabolic diseases. Nature Communications 10(1):1060 (2019)
Allele G
OR 0.31
p 2.0e-10
N 80,003
Large GWAS
European

fatty acid amount

Allele C
OR
p 7.0e-11
N 239,268
Large GWAS
European

ClinVar annotation

Conflicting Classifications
19 submitters26 publications

Congenital afibrinogenemia; Abnormal bleeding; not provided; Thrombocytopenia;Abnormal bleeding; not specified; Thrombus; Familial dysfibrinogenemia; FGG-related disorder; Familial dysfibrinogenemia;Congenital afibrinogenemia; Hereditary factor I deficiency disease

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About FGG

The protein encoded by this gene is the gamma 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. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

View all FGG variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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