rs2066864

This variant is located in the FGG gene.

GWAS Catalog Trait Associations (4)

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

heart disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.14
p 5.0e-45
N 614,534
Major Consortium StudyLarge GWAS
multi-ancestry

deep vein thrombosis

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.20
p 3.0e-41
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

Thromboembolism

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.18
p 8.0e-22
N 118,315
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

venous thromboembolism

Thibord F et al. Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors. Circulation 146(16):1225-1242 (2022)
Allele A
OR 0.20
p 3.0e-242
N 1,508,386
Large GWAS
multi-ancestry
Allele A
OR 1.20
p 2.0e-59
N 202,356
Large GWAS
multi-ancestry

ClinVar annotation

Benign★★★
2 submitters1 publication
View on ClinVar →

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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