rs6028

This is a synonymous variant in the F5 gene — it does not change the protein's amino acid sequence.

▶

GWAS Catalog Trait Associations (2)

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

blood coagulation trait

Tang W et al. “Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.” American Journal of Human Genetics 91(1):152-62 (2012)

Allele C

OR 0.23

p 3.0e-9

N 9,240

Large GWAS

European

cup-to-disc ratio measurement

Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)

Allele T

OR 0.00

p 3.0e-9

N 65,680

Large GWAS

European

▶

ClinVar annotation

Likely Benign★★★☆

8 submitters2 publications

Budd-Chiari syndrome (BDCHS); Congenital factor V deficiency; Factor V deficiency; Thrombophilia due to activated protein C resistance (THPH2); Thrombophilia due to thrombin defect (THPH1); not specified

View on ClinVar →

About F5

This gene encodes an essential cofactor of the blood coagulation cascade. This factor circulates in plasma, and is converted to the active form by the release of the activation peptide by thrombin during coagulation. This generates a heavy chain and a light chain which are held together by calcium ions. The activated protein is a cofactor that participates with activated coagulation factor X to activate prothrombin to thrombin. Defects in this gene result in either an autosomal recessive hemorrhagic diathesis or an autosomal dominant form of thrombophilia, which is known as activated protein C resistance. [provided by RefSeq, Oct 2008]