rs675209

This is a intergenic variant variant.

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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

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 T
OR 0.04
p 1.0e-84
N 454,183
Meta-analysisLarge GWAS
European
Boocock J et al. “Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.” Human Molecular Genetics 29(6):923-943 (2020)
Allele T
OR 0.06
p 4.0e-23
N 131,709
Large GWAS
multi-ancestry
Köttgen A et al. “Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.” Nature Genetics 45(2):145-54 (2013)
Allele T
OR 0.06
p 1.0e-23
N 110,347
Large GWAS
European
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 T
OR 4.39
p 1.0e-9
N 28,283
Large GWAS
European

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 T
OR 0.04
p 6.0e-24
N 210,206
Meta-analysisLarge GWAS
multi-ancestry

Varicose veins

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.07
p 1.0e-9
N 638,428
Large GWAS
multi-ancestry

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele T
OR 0.01
p 3.0e-8
N 2,365,010
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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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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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

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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