rs729761
This variant is located in the POLR1C gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
nodular goiter
White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele G
OR 0.06
p 9.0e-17
N 1,807,553
Large GWAS
European
urate measurement
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 0.05
p 8.0e-16
N 110,347
Large 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 0.04
p 8.0e-13
N 131,709
Large GWAS
multi-ancestry
triglyceride measurement
Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele T
OR 0.02
p 1.0e-15
N 441,016
Large GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.02
p 1.0e-12
N 361,194
Large GWAS
European
blood urea nitrogen amount
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 1.0e-12
N 598,949
Major Consortium StudyLarge GWAS
multi-ancestry
nephrolithiasis
Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)
Allele T
OR 1.08
p 1.0e-12
N 975,370
Large GWAS
multi-ancestry
serum creatinine amount
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele G
OR 0.05
p 2.0e-11
N 69,591
Meta-analysisLarge GWAS
European
docosahexaenoic acid to total fatty acids percentage
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 2.0e-8
N 239,268
Large GWAS
European
glomerular filtration rate
Lee DJ et al. “Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.” Kidney Research and Clinical Practice 43(3):299-312 (2024)
Allele T
OR 0.65
p 2.0e-8
N 58,406
Large GWAS
East Asian
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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