rs72683442

This is a downstream gene variant variant in the SLC16A1 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 C

OR 0.35

p 4.0e-21

N 31,135

Large GWAS

European

About SLC16A1

The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]

View all SLC16A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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