rs6041

This is a upstream gene variant variant in the F7 gene.

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GWAS Catalog Trait Associations (3)

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

factor VII measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 1.19
p 4.0e-277
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

blood coagulation trait

Williams FM et al. “Ischemic stroke is associated with the <i>ABO</i> locus: The EuroCLOT study” Annals of Neurology (2013)
Allele G
OR 0.88
p 2.0e-45
N 2,100
Large GWAS
European

tissue factor measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR 0.10
p 4.0e-13
N 21,758
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
5 submitters2 publications

not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Ischemic stroke is associated with the ABO locus: The EuroCLOT study
AssociationN=63,100Williams FM et al.(2013)· Annals of Neurology

The EuroCLOT study identified genetic variants associated with coagulation factors in healthy volunteers and examined their association with ischemic stroke using a three-stage design (2,100 twins in discovery, 4,200 cases in stage 2, and 8,900 cases/55,000 controls in stage 3). The lead ABO locus SNP rs505922 showed significant association with ischemic stroke (OR=1.07, 95% CI=1.03-1.11, p=0.0006), with association specifically in cardioembolic and large-vessel stroke but not small-vessel disease. Two additional ABO SNPs (rs643434 and rs651007) also showed significant association.

Traits studied:Cardioembolic strokeD-dimer concentrationFXIII activityFactor VII clotting activityFactor VIIIIschemic strokeLarge-vessel strokeSmall-vessel diseasevon Willebrand Factor
PubMedDOIMetascience Observatory

About F7

This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]

View all F7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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