rs1593

This is a intron variant variant in the F11 gene.

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GWAS Catalog Trait Associations (1)

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 A

OR 0.54

p 2.0e-18

N 9,240

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; not specified

View on ClinVar →

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Research that mentions this SNP (1)

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An osteopontin (SPP1) polymorphism is associated with systemic lupus erythematosus

AssociationN=4,897Forton AC et al.(2002)· Human Mutation

Genome-wide association study of osteopontin (OPN) levels in 4,897 European chronic kidney disease patients identified 3 genome-wide significant loci (p < 5.0E-08). Two loci replicated in the Young Finns Study: rs10011284 upstream of SPP1 (encoding OPN; beta = -0.10, p = 8.59e-11) and rs4253311 in KLKB1 (encoding prekallikrein; beta = -0.14, p = 5.29e-20). A third locus rs2731673 near F12/GRK6 did not replicate. Rare variant testing identified SPP1 as significant (p = 2.5E-8), implicating OPN genetics in chronic kidney disease pathophysiology.

Traits studied:Chronic kidney diseaseOsteopontin serum levels

PubMed DOI Metascience Observatory

About F11

This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]