rs4074961

This is a intron variant variant in the RSPO1 gene.

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GWAS Catalog Trait Associations (4)

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

axial length measurement

Cheng CY et al. “Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.” American Journal of Human Genetics 93(2):264-77 (2013)
Allele T
OR 0.07
p 4.0e-13
N 12,531
Large GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 1.0e-8
N 455,180
Large GWAS
Hispanic or Latin American

corneal topography

Fan Q et al. “Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.” Communications Biology 3(1):133 (2020)
Allele T
OR —
β 0.019
p 4.0e-10
N 14,462
Meta-analysisLarge GWAS
East Asian, South East Asian, South Asian, Asian unspecified

About RSPO1

This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

View all RSPO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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