rs6030

This is a variant in the F5 gene that changes a methionine to an valine.

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GWAS Catalog Trait Associations (1)

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

optic disc size trait

Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)

Allele T

OR —

β 0.010

p 2.0e-10

N 67,040

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

9 submitters2 publications

Congenital factor V deficiency; Thrombophilia due to activated protein C resistance (THPH2); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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A genome wide association study of plasma uric acid levels in obese cases and never‐overweight controls

AssociationN=961Li WD et al.(2013)· Obesity

A genome-wide association study of 961 individuals (520 obese cases BMI>35, 440 normal-weight controls BMI<25) identified two loci reaching genome-wide significance for plasma uric acid levels: SLC2A9 (rs6449213, P=3.15×10⁻¹²) and DIP2C (rs877282, P=4.56×10⁻⁸). Five additional genes (F5, PXDNL, FRAS1, LCORL, MICAL2) showed weaker associations (P<1×10⁻⁵), and three previously identified uric acid genes (ABCG2, SLC17A1, RREB1) received marginal support.

Traits studied:HyperuricemiaPlasma uric acid levels

PubMed DOI Metascience Observatory

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]