rs9491696

This variant is located in the RSPO3 gene.

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GWAS Catalog Trait Associations (7)

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

waist-hip ratio

Heid IM et al. “Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.” Nature Genetics 42(11):949-60 (2010)
Allele G
OR —
β 0.040
p 2.0e-40
N 77,167
Meta-analysisLarge GWAS
European
Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele G
OR 0.04
p 1.0e-23
N 143,480
Large GWAS
multi-ancestry

level of carboxypeptidase A1 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.06
p 7.0e-35
N 47,745
Large GWAS
European

phospholipids in large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.03
p 1.0e-30
N 241,027
Large GWAS
European

blood urea nitrogen amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.03
p 5.0e-17
N 148,767
Large GWAS
East Asian

BMI-adjusted hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)
Allele C
OR 0.03
p 1.0e-10
N 143,480
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association studies of novel obesity-related gene variants with quantitative metabolic phenotypes in a population-based sample of 6,039 Danish individuals
AssociationN=6,039Burgdorf KS et al.(2012)· Diabetologia

This association study investigates 18 BMI-associated and 14 WHR-associated gene variants identified by prior GWAS in 6,039 Danish individuals from the Inter99 cohort. The study found that QPCTL rs2287019 C allele was associated with increased insulinogenic index (7.4%, p=4.0×10⁻⁷) and disposition index (5.6%, p=6.4×10⁻⁵), while LRP1B rs2890652 C allele was associated with insulin resistance (3.3% increase in HOMA-IR, p=0.0011). For WHR variants, LYPLAL1/SLC30A10 rs4846567 G allele carriers showed improved insulin sensitivity (5.2% lower HOMA-IR in women, p=0.00086), whereas VEGFA rs6905288 A allele carriers showed insulin resistance in women (3.7% increase in HOMA-IR, p=0.00036).

Traits studied:BIGTT-AIR (Beta Cell Function)Body Mass Index (BMI)Disposition IndexFasting Plasma GlucoseFasting Serum InsulinHOMA-IR (Insulin Resistance)Insulinogenic IndexMatsuda Index (Insulin Sensitivity)Waist-Hip Ratio (WHR)
PubMedDOIMetascience Observatory

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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