rs121907892

This is a protein-altering variant 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.

uric acid measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 1.16
p —
N 129,405
Large GWAS
East Asian
Flanagan J et al. “Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population.” Communications Biology 7(1):1665 (2024)
Allele A
OR 1.16
p —
N 181,927
Large GWAS
East Asian
Cho SK et al. “Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.” Scientific Reports 10(1):9179 (2020)
Allele A
OR 1.15
p 7.0e-54
N 6,881
Large GWAS
East Asian
Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)
Allele A
OR 1.24
p 3.0e-30
N 1,951
Large GWAS
East Asian

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 2.86
p 1.0e-28
N 47,911
Large GWAS
East Asian
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ClinVar annotation

Pathogenic★★★☆
8 submitters15 publications

Dalmatian hypouricemia; not provided; SLC22A12-related disorder

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]

View all SLC22A12 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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