rs75786299

This variant is located in the SLC22A12 gene.

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GWAS Catalog Trait Associations (2)

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

hyperuricemia

Kim EY et al. “A genome-wide study on gene-nutrient interactions for hyperuricemia in a large Korean cohort (KoGES).” Scientific Reports 15(1):30626 (2025)

Allele A

OR 2.91

p 2.0e-29

N 47,537

Large GWAS

East Asian

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)

Allele A

OR 4.71

p 4.0e-21

N 93,546

Large GWAS

East Asian

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ClinVar annotation

Likely Benign★★★☆

3 submitters5 publications

Dalmatian hypouricemia; not provided

View on ClinVar →

About SLC22A12

The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]