rs4524

This is a variant in the F5 gene that changes a lysine to an arginine.

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GWAS Catalog Trait Associations (3)

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

sialic acid-binding Ig-like lectin 11 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.38
p 1.0e-168
N 10,708
Large GWAS
European

neuronal pentraxin-2 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.27
p 2.0e-76
N 10,708
Large GWAS
European

venous thromboembolism

Lindström S et al. “Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.” Blood 134(19):1645-1657 (2019)
Allele T
OR 1.14
p 3.0e-29
N 202,356
Large GWAS
multi-ancestry
Germain M et al. “Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.” American Journal of Human Genetics 96(4):532-42 (2015)
Allele T
OR 1.20
p 3.0e-11
N 60,139
Meta-analysisLarge 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 (2)

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Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study
Meta-analysisN=60,139Sara Lindström et al.(2017)· Human Genetics

Mendelian Randomization study examining the causal relationship between obesity (BMI) and venous thromboembolism using 95 BMI-associated SNPs in 7,507 VTE cases and 52,632 European ancestry controls. FTO rs1558902 showed the strongest individual association with VTE (OR 1.07, P = 0.005), and genetically predicted high BMI was significantly associated with increased VTE risk (OR 1.59 per SD increase in BMI, P = 5.8 × 10^-6), providing evidence for a causal relationship between obesity and VTE.

Traits studied:Body mass indexDeep vein thrombosisObesityPulmonary embolismVenous thromboembolism
PubMedDOIMetascience Observatory
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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
PubMedDOIMetascience 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]

View all F5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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