rs3775948

This variant is located in the SLC2A9 gene.

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GWAS Catalog Trait Associations (5)

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

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele C
OR 0.17
p —
N 219,768
Meta-analysisLarge GWAS
East Asian

urinary system trait, uric acid measurement

Okada Y et al. “Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.” Nature Genetics 44(8):904-9 (2012)
Allele C
OR 0.18
p 2.0e-65
N 21,417
Meta-analysisLarge GWAS
East Asian

gout

Matsuo H et al. “Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.” Annals of the Rheumatic Diseases 75(4):652-9 (2016)
Allele G
OR 1.61
p 6.0e-27
N 2,158
Large GWAS
East Asian
Nakayama A et al. “Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.” Annals of the Rheumatic Diseases 79(5):657-665 (2020)
Allele G
OR 1.67
p 1.0e-19
N 5,459
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 G
OR 0.69
p 2.0e-36
N 47,537
Large GWAS
East Asian

uric acid measurement

Nakatochi M et al. “Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.” Communications Biology 2:115 (2019)
Allele G
OR 0.13
p 4.0e-218
N 210,206
Meta-analysisLarge GWAS
multi-ancestry
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 G
OR 0.12
p 6.0e-173
N 181,927
Large GWAS
East Asian
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.11
p 4.0e-227
N 129,405
Large GWAS
East Asian
Yasukochi Y et al. “Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.” Molecular Genetics and Genomics : Mgg 293(2):371-379 (2018)
Allele G
OR 10.62
p 2.0e-16
N 5,847
Large GWAS
East Asian
Giri AK et al. “Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.” Scientific Reports 6:21440 (2016)
Allele G
OR 15.45
p 2.0e-19
N 1,109
Large GWAS
South Asian
Charles BA et al. “A genome-wide association study of serum uric acid in African Americans.” Bmc Medical Genomics 4:17 (2011)
Allele G
OR 0.21
p 1.0e-8
N 1,017
Large GWAS
African American or Afro-Caribbean
Rivera-Paredez B et al. “Influence of Genetic and Non-Genetic Risk Factors for Serum Uric Acid Levels and Hyperuricemia in Mexicans.” Nutrients 11(6) (2019)
Allele G
OR 0.40
p 8.0e-64
N 396
Small GWAS
Hispanic or Latin American
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Research that mentions this SNP (2)

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NPT1/SLC17A1 Is a Renal Urate Exporter in Humans and Its Common Gain‐of‐Function Variant Decreases the Risk of Renal Underexcretion Gout
AssociationN=3,103Toshinori Chiba et al.(2015)· Arthritis &amp; Rheumatology

This replication study analyzed 2255 variants in LD with GWAS-identified gout/serum urate susceptibility loci in 1255 Han Chinese gout patients and 1848 controls. Twenty-three variants (41%) showed nominal association (p<0.05), with the strongest signal at ABCG2 rs1481012 (p=8.96×10⁻¹¹, OR=1.890). Previous gout-associated loci including ABCG2, SLC2A9, GCKR, ALDH2, and CNIH2 were replicated, while cumulative genetic risk scores showed that individuals with ≥8 risk alleles had significantly increased gout risk (OR=16.361 for ≥12 alleles).

Traits studied:GoutSerum urate concentrations
PubMedDOIMetascience Observatory
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Association between gout and polymorphisms in GCKR in male Han Chinese
AssociationN=3,103Jing Wang et al.(2012)· Human Genetics

This replication study examined 2,255 variants in linkage disequilibrium with GWAS-identified gout/urate susceptibility loci in 1,255 Han Chinese gout patients and 1,848 controls. Twenty-three variants (41% of 56 LD-pruned variants) showed nominal association with gout (p < 0.05), with the strongest signals at ABCG2 (rs1481012, OR=1.890, p=8.96×10⁻¹¹) and SLC2A9 (rs11722228, OR=1.619, p=2.40×10⁻⁶). Cumulative genetic risk score analysis demonstrated increasing gout risk with growing numbers of risk alleles (OR=16.361 for ≥12 alleles vs ≤5 reference).

Traits studied:GoutSerum urate levels
PubMedDOIMetascience Observatory

About SLC2A9

This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all SLC2A9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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