rs2022309

This is a intron variant variant in the LOC105378861 gene.

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GWAS Catalog Trait Associations (2)

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

D dimer measurement

Sherman BT et al. “Genome-wide association study of high-sensitivity C-reactive protein, D-dimer, and interleukin-6 levels in multiethnic HIV+ cohorts.” Aids (london, England) 35(2):193-204 (2021)
Allele T
OR 0.09
p 2.0e-13
N 7,052
Large GWAS
multi-ancestry

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 0.24
p 4.0e-8
N 2,100
Large GWAS
European
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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

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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