rs7741021

This is a regulatory region variant variant in the RSPO3 gene.

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GWAS Catalog Trait Associations (11)

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

bone fracture

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele A
OR 0.05
p 9.0e-65
N 426,795
Large GWAS
European

bone quantitative ultrasound measurement

Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele C
OR 0.06
p 9.0e-21
N 14,260
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry
Mullin BH et al. “Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.” Human Molecular Genetics 26(14):2791-2802 (2017)
Allele C
OR 0.08
p 6.0e-13
N 16,627
Meta-analysisLarge GWAS
European

velocity of sound measurement

Moayyeri A et al. “Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.” Human Molecular Genetics 23(11):3054-68 (2014)
Allele C
OR 0.06
p 1.0e-19
N 15,514
Meta-analysisMajor Consortium StudyLarge GWAS
multi-ancestry

bone disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 4.0e-11
N 610,293
Major Consortium StudyLarge GWAS
multi-ancestry

bone tissue density

Surakka I et al. “MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk.” Nature Communications 11(1):4093 (2020)
Allele C
OR 0.07
p 2.0e-10
N 21,907
Large GWAS
European
Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele C
OR 0.05
p 2.0e-9
N 31,873
Large GWAS
European

apolipoprotein A 1 measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.02
p 3.0e-8
N 115,082
Large GWAS
European

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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