rs1165196

This is a protein-altering variant in the SLC17A1 gene.

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GWAS Catalog Trait Associations (7)

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

urate measurement

Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele G
OR 0.07
p 5.0e-295
N 454,183
Meta-analysisLarge GWAS
European
Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele G
OR 0.07
p 4.0e-47
N 219,768
Meta-analysisLarge GWAS
East Asian
Yang Q et al. “Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.” Circulation. Cardiovascular Genetics 3(6):523-30 (2010)
Allele G
OR 6.21
p 5.0e-25
N 28,283
Large GWAS
European
Huffman JE et al. “Modulation of genetic associations with serum urate levels by body-mass-index in humans.” Plos One 10(3):e0119752 (2015)
Allele G
OR 0.09
p 1.0e-9
N 17,247
Large GWAS
European

hexanoylglutamine measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele A
OR 0.40
p 2.0e-107
N 4,909
Large GWAS
European

X-25371 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele A
OR 0.25
p 2.0e-59
N 8,205
Large GWAS
European

N-acetyltryptophan measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.23
p 1.0e-50
N 9,138
Large GWAS
multi-ancestry

gout

Sandoval-Plata G et al. “Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank.” Annals of the Rheumatic Diseases 80(9):1220-1226 (2021)
Allele G
OR 0.78
p 5.0e-36
N 71,473
Major Consortium StudyLarge GWAS
European
Sumpter NA et al. “Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout.” Arthritis & Rheumatology (hoboken, N.j.) 75(5):816-825 (2023)
Allele G
OR 1.20
p 4.0e-26
N 332,370
Large GWAS
European
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele G
OR 1.25
p 6.0e-17
N 93,546
Large GWAS
East Asian

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele A
OR 0.20
p 6.0e-25
N 4,801
Large GWAS
European
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Research that mentions this SNP (4)

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Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index
AssociationN=5,097Reynolds RJ et al.(2016)· Rheumatology International

This association study examined eight validated serum urate-associated SNPs and their interactions with BMI and renal disease in predicting incident gout in the Framingham Heart Study. Four SNPs were significantly associated with gout (rs1967017 OR=1.23, rs13129697 OR=1.62, rs2199936 OR=1.63, rs675209 OR=1.20), but BMI-SNP interactions were not significant. Notably, rs1106766 (INHBC) showed a significant renal disease interaction (P=6.12E-03), exhibiting a protective effect only in individuals without renal disease.

Traits studied:GoutHyperuricemiaSerum urate levels
PubMedDOIMetascience Observatory
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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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The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population
AssociationN=2,359Chang-Nam Son et al.(2014)· Rheumatology International

A two-part genetic association study in Korean populations examining SNP associations with serum uric acid (SUA) concentration. Study 1 compared minor allele frequencies of 40 SNPs associated with SUA across Korean, Japanese, and European descent populations in 1,957 subjects. Study 2 analyzed associations in 402 RA patients, finding rs12734001 (PPP1R12B) most significantly associated with SUA levels (P_trend = 2.29 × 10^-9) and rs3741414 (INHBC) with P_trend = 0.01. Results showed Korean SNP frequencies were more similar to Japanese than European populations.

Traits studied:gouthyperuricemiaserum uric acid concentration
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 SLC17A1

Predicted to enable transmembrane transporter activity. Involved in sodium-dependent phosphate transport; urate metabolic process; and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC17A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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