rs10083695

This is a intron variant variant in the WDR72 gene.

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GWAS Catalog Trait Associations (1)

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

photoreceptor cell layer thickness measurement

Currant H et al. “Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.” Plos Genetics 19(2):e1010587 (2023)

Allele G

OR 0.36

p 8.0e-13

N 31,135

Large GWAS

European

About WDR72

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

View all WDR72 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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