rs4470745

This variant is located in the VCAN gene.

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GWAS Catalog Trait Associations (1)

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

white matter integrity

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)

Allele G

OR 0.06

p 4.0e-10

N 20,860

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

not specified; Vitreoretinopathy; Wagner disease; not provided

View on ClinVar →

About VCAN

This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

View all VCAN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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