rs3734692

This variant is located in the POLR1C gene.

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GWAS Catalog Trait Associations (1)

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

urinary albumin to creatinine ratio

Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele A
OR 0.02
p 4.0e-16
N 547,361
Large GWAS
European
Casanova F et al. “A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.” Human Molecular Genetics 28(24):4197-4207 (2019)
Allele A
OR 0.02
p 2.0e-13
N 437,027
Large GWAS
European
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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 POLR1C

The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all POLR1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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