rs11158820

This variant is located in the SMOC1 gene.

▶

GWAS Catalog Trait Associations (1)

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

Abnormality of the skeletal system

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 0.01
p 5.0e-16
N 394,642
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio
AssociationN=979Lawrance-Owen AJ et al.(2013)· Human Genetics

A genome-wide association study of 979 healthy adults identified SMOC1 as a novel locus strongly associated with digit ratio (2D:4D), a biomarker of prenatal sex hormone exposure. The strongest association was at rs4902759 (P = 1.41 × 10⁻⁸), with each additional C allele decreasing 2D:4D by 0.0076. Meta-analysis with an independent study yielded P = 1.5 × 10⁻¹¹. The authors propose that SMOC1, a gene critical for limb development that is regulated by sex hormones, mediates the relationship between prenatal hormone exposure and digit ratio.

Traits studied:Digit ratio (2D:4D)Prenatal testosterone exposure
PubMedDOIMetascience Observatory

About SMOC1

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

View all SMOC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…