Uric Acid & Kidney Function

Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the GLUT9 renal urate transporter locus; the T allele (GRCh38 reference) is common in East Asian populations (~92%) where gout prevalence is highest, while the C allele (~71% in Africans) tags a haplotype associated with more efficient renal urate clearance and lower serum uric acid setpoint

Missense variant in SLC17A1 (NPT1) encoding a Thr269Ile substitution; the G allele (Thr269) is a gain-of-function variant that enhances renal NPT1-mediated urate secretion and lowers gout risk, while the common A allele (Ile269) carries baseline NPT1 activity and higher gout susceptibility

Intronic variant in SLC17A3, encoding the renal apical urate efflux transporter NPT4; the A allele is associated with reduced urate secretory capacity, raising serum uric acid and increasing gout risk

Missense variant in the innate immune kinase ALPK1 (Met861Thr); the C allele is associated with elevated gout risk in East Asian populations through altered URAT1-mediated urate homeostasis and NF-κB inflammatory signaling

Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter; the T allele impairs renal urate secretion, raising serum uric acid and increasing gout risk, with protective A allele frequency ~46% in Europeans

Intronic SLC2A9 variant tagging an independent urate-transport signal; the protective C allele (~26% global frequency) reduces serum uric acid by 0.23–0.46 mg/dL per copy — with a substantially stronger effect in women — and attenuates the hyperuricemic response to fructose; the major T allele confers elevated uric acid and increased gout risk, particularly in Europeans

Nonsense mutation in URAT1 that abolishes urate reabsorption in the kidney, causing renal hypouricemia type 1 with very low serum uric acid and risk of exercise-induced acute kidney injury

Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is associated with lower serum uric acid levels and reduced gout risk

Uromodulin promoter variant — strongest GWAS signal for chronic kidney disease risk, affecting salt handling and blood pressure via NKCC2

Missense variant in URAT1 reducing urate reabsorption in the kidney, causing lower serum uric acid and strong protection against gout; enriched in African ancestry populations and documented as the dominant SLC22A12 signal for serum uric acid in that group

Intronic variant in the carbonic anhydrase 1 gene cluster on chromosome 8 associated with blood zinc levels in genome-wide association studies; CA1 is a zinc-binding metalloenzyme expressed at very high levels in erythrocytes

Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile substitution) reduces urate reabsorption in the proximal tubule, lowering serum uric acid and conferring protection against hyperuricemia and gout

Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4; the T allele tags a haplotype associated with reduced renal urate clearance and higher serum uric acid, while the C allele is protective; the variant contributes to the multi-signal genetic architecture of the SLC2A9 locus — the single largest genetic determinant of serum urate in humans

Intronic variant in the OAT4 renal urate transporter that modulates uric acid reabsorption in the proximal tubule, with the C allele raising serum urate and increasing gout risk especially in diuretic users

Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate transporter locus; the A allele (coding-strand T) is in linkage disequilibrium with known urate-raising haplotypes at SLC2A9 and is associated with modestly elevated serum uric acid through reduced renal urate clearance efficiency; the G allele (coding-strand C) tags the urate-lowering haplotype

Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele is markedly enriched in East Asian populations (~41%) compared to Europeans (~5%) and may influence SLC2A9 splicing, modestly elevating serum uric acid and gout risk via linkage with the broader SLC2A9 risk haplotype

Missense variant in the major renal urate transporter; the Arg265 (C) allele is associated with less efficient urate excretion, elevating serum uric acid and gout risk, with the strongest effects in East Asian populations and in women

Synonymous coding variant in the URAT1 renal urate transporter; the C allele is associated with increased urate reabsorption and 27% higher odds of hyperuricemia, completing the URAT1 genetic panel alongside rs505802 (promoter) and rs121907892 (W258X)

UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-sensitive hypertension, and gout risk with paradoxical kidney stone protection

Intronic SLC2A9 variant in a third independent haplotype block within the GLUT9 urate transporter locus; the A allele (reference, ~57% European frequency) is associated with elevated serum uric acid, while the protective G allele (~43% European) improves renal urate clearance — with stronger effects in women — and reduces dietary fructose-induced urate spikes

Intronic SLC2A9 tag variant tracking the GLUT9 urate-reabsorption haplotype; the A allele follows the same population frequency gradient as established SLC2A9 risk alleles — highest in East Asians (~92%), lowest in Africans (~34%) — tagging elevated renal urate retention and higher gout risk; the G allele tracks the protective, urate-lowering haplotype

Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A allele tags a protective haplotype associated with more efficient renal urate excretion, while the G allele (population major in East Asians where gout prevalence is highest) tags reduced clearance and elevated serum uric acid — following the same population gradient as other SLC2A9 protective intronic variants

Intronic regulatory variant in the URAT1 renal urate transporter gene; the T allele upregulates SLC22A12 expression, increasing urate reabsorption and raising serum uric acid, with TT individuals at substantially higher gout risk

Upstream regulatory variant in the URAT1 urate reabsorption transporter gene; the C allele increases SLC22A12 expression and renal urate reabsorption, elevating serum uric acid and gout risk, with the strongest effects in East Asian and African populations where the C allele predominates

Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associated with serum bilirubin levels; the T allele reduces glucuronidation capacity, causing mild hyperbilirubinemia and a dose-dependent increase in pigment gallstone risk

Intronic variant in PRKG2 (cGMP-dependent protein kinase II); the T allele was associated with gout susceptibility in a recessive model in a Taiwanese population, proposed to amplify joint inflammation via cGKII-driven macrophage M1 polarization, though a Japanese replication study found no association

Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-clearance haplotype; the T allele is associated with reduced urate excretion and elevated serum uric acid, while the C allele tags the protective haplotype that supports more efficient renal urate clearance

Intronic SLC2A9 variant tagging a urate-transport regulatory haplotype; the protective T allele (~48% global frequency) is enriched in populations with lower gout prevalence and is associated with more efficient renal urate clearance, while the risk C allele — common in East Asians (~90%) where gout prevalence is highest — tags reduced GLUT9-mediated reabsorption efficiency and elevated serum uric acid

Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bilirubin glucuronidation; homozygotes develop Crigler-Najjar syndrome type II with persistent unconjugated hyperbilirubinemia that responds to phenobarbital treatment

Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxicity, strongly reducing kidney disease risk in carriers of G2-containing high-risk genotypes

Intronic SLC2A9 variant located within the GLUT9 renal urate transporter gene; the A allele is enriched in European populations and lies approximately 4.8 kb from the established urate-GWAS signal rs11942223, suggesting potential haplotype co-tagging with known SLC2A9 uric acid regulatory signals; direct evidence for an independent effect on serum urate is currently absent, and the variant has no GWAS associations or published citations as of 2026

Intronic variant in the major renal urate transporter GLUT9; the G allele reduces renal urate excretion, raising serum uric acid and increasing gout risk, with stronger effects in women than men

Regulatory upstream variant in the SLC2A9 promoter region; the T allele is associated with modestly elevated serum uric acid in some populations, while the C allele may confer partial protection; independent of the major coding variants at this locus and likely acts through altered GLUT9 transcriptional regulation

Intronic regulatory variant physically located in PDILT that controls uromodulin (Tamm-Horsfall protein / UMOD) expression — the strongest genetic predictor of longitudinal kidney function decline in the general population. Catalog gene attribution is UMOD (the regulatory target and clinically relevant gene); physical location is PDILT (adjacent gene in the same LD block).