rs62394296

This is a intron variant variant in the SLC17A3 gene.

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GWAS Catalog Trait Associations (2)

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

mean corpuscular hemoglobin concentration

Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)

Allele T

OR 0.07

p 1.0e-11

N 38,000

Large GWAS

South Asian

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)

Allele T

OR 0.01

p 4.0e-10

N 425,097

Large GWAS

European

About SLC17A3

The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]

View all SLC17A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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