rs1317983

This is a regulatory region variant variant in the POLR1C gene.

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GWAS Catalog Trait Associations (9)

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

Thyroid stimulating hormone level

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)
Allele C
OR 0.09
p 3.0e-114
N 164,818
Large GWAS
European
Zhou W et al. “GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.” Nature Communications 11(1):3981 (2020)
Allele C
OR 0.10
p 2.0e-86
N 119,715
Large GWAS
European

urate measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 2.0e-65
N 394,642
Large GWAS
European

uric acid measurement

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 0.03
p 3.0e-50
N 473,241
Large GWAS
multi-ancestry

bladder calculus

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 0.07
p 1.0e-18
N 433,456
Major Consortium StudyLarge GWAS
European

thyroid disease

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 0.07
p 2.0e-16
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

serum creatinine amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.03
p 8.0e-14
N 110,051
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele T
OR 0.03
p 1.0e-11
N 84,405
Large GWAS
European

serum creatinine amount, glomerular filtration rate

Gorski M et al. “1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.” Scientific Reports 7:45040 (2017)
Allele T
OR 0.01
p 1.0e-13
N 110,517
Meta-analysisLarge GWAS
European

glomerular filtration rate

Loeb GB et al. “Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.” Nature Genetics 56(10):2078-2092 (2024)
Allele C
OR —
β 0.043
p 1.0e-83
N 406,504
Large GWAS
European
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 C
OR 0.63
p 3.0e-10
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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