rs9491697

This variant is located in the RSPO3 gene.

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GWAS Catalog Trait Associations (8)

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

Crohn's disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele G
OR 1.08
p 4.0e-10
N 34,366
Large GWAS
European

calvaria morphology trait

Goovaerts S et al. “Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.” Nature Communications 14(1):7436 (2023)
Allele A
OR —
p 2.0e-9
N 6,772
Large GWAS
multi-ancestry

About RSPO3

This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]

View all RSPO3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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