rs149268042

This variant is located in the DKK1 gene.

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GWAS Catalog Trait Associations (1)

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

dickkopf‐related protein 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.37

p 6.0e-15

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign

1 submitter

DKK1-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic Association Study of Dickkopf-1 and Sclerostin Genes with Paget Disease of Bone

AssociationN=536Mariejka Beauregard et al.(2013)· Calcified Tissue International

Genetic association study of DKK1 and SOST genes in 239 French-Canadian Paget disease of bone (PDB) patients and 297 controls. Three rare DKK1 variants were identified (including p.R120L, a conserved arginine alteration). A weak association was found with DKK1 Tag SNP rs1569198 (G allele: 42% in cases vs. 49% in controls, P=0.03, OR=0.77, 95% CI 0.61-0.98), suggesting a possible protective effect. No associations were found in the SOST gene.

Traits studied:Paget disease of bone

PubMed DOI Metascience Observatory

About DKK1

This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017]