rs12116643

This variant is located in the CFHR5 gene.

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GWAS Catalog Trait Associations (4)

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

age-related macular degeneration

Han X et al. “Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration.” Journal of Human Genetics 65(8):657-665 (2020)
Allele T
OR 1.67
p 2.0e-157
N 130,232
Meta-analysisLarge GWAS
European

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 T
OR 0.52
p 5.0e-30
N 2,100
Large GWAS
European

blood protein amount

Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 0.25
p 1.0e-12
N 3,200
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

About CFHR5

This gene is a member of a small complement factor H (CFH) gene cluster on chromosome 1. Each member of this gene family contains multiple short consensus repeats (SCRs) typical of regulators of complement activation. The protein encoded by this gene has nine SCRs with the first two repeats having heparin binding properties, a region within repeats 5-7 having heparin binding and C reactive protein binding properties, and the C-terminal repeats being similar to a complement component 3 b (C3b) binding domain. This protein co-localizes with C3, binds C3b in a dose-dependent manner, and is recruited to tissues damaged by C-reactive protein. Allelic variations in this gene have been associated, but not causally linked, with two different forms of kidney disease: membranoproliferative glomerulonephritis type II (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq, Jan 2010]

View all CFHR5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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