rs7160726

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.

sPARC-related modular calcium-binding protein 1 measurement

Sun BB et al. Genomic atlas of the human plasma proteome. Nature 558(7708):73-79 (2018)
Allele G
OR
β 0.200
p 3.0e-16
N 3,301
Large GWAS
European

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.

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