rs881858
This is a regulatory region variant variant in the POLR1C gene.
▶GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypothyroidism
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 A
OR 0.10
p 9.0e-117
N 1,786,062
Large GWAS
European
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele A
OR 0.08
p 9.0e-47
N 1,178,661
Large GWAS
European
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 A
OR 1.09
p 4.0e-26
N 691,986
Large GWAS
European
Mathieu S et al. “Genetic association and Mendelian randomization for hypothyroidism highlight immune molecular mechanisms.” Iscience 25(9):104992 (2022)
Allele A
OR 0.07
p 4.0e-17
N 494,577
Large GWAS
European
Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)
Allele A
OR 0.69
p 4.0e-10
N 73,050
Large GWAS
East Asian
glomerular filtration rate
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele A
OR 20.93
p 3.0e-97
N 1,508,659
Large GWAS
multi-ancestry
Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele A
OR 0.01
p 5.0e-83
N 1,201,930
Large GWAS
multi-ancestry
Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele A
OR 0.01
p 5.0e-67
N 765,348
Large GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 1.0e-59
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele A
OR 11.03
p 3.0e-28
N 350,514
Meta-analysisLarge GWAS
multi-ancestry
Mahajan A et al. “Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.” American Journal of Human Genetics 99(3):636-646 (2016)
Allele A
OR 0.77
p 2.0e-9
N 71,638
Large GWAS
multi-ancestry
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 A
OR 0.63
p 3.0e-10
N 58,406
Large GWAS
East Asian
serum creatinine amount
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 9.0e-73
N 450,015
Large GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 3.0e-62
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry
cystatin C measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 9.0e-56
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry
urate measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.04
p 2.0e-46
N 355,426
Major Consortium StudyLarge GWAS
multi-ancestry
hemoglobin measurement
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele G
OR —
β 0.035
p 3.0e-22
N 52,141
Large GWAS
European
serum creatinine amount, glomerular filtration rate
Pattaro C et al. “Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.” Nature Communications 7:10023 (2016)
Allele A
OR 0.01
p 4.0e-14
N 118,448
Large GWAS
European
chronic kidney disease, serum creatinine amount
Köttgen A et al. “New loci associated with kidney function and chronic kidney disease.” Nature Genetics 42(5):376-84 (2010)
Allele G
OR 1.08
p 9.0e-14
N 67,093
Large GWAS
European
glucose measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 3.0e-12
N 325,386
Major Consortium StudyLarge GWAS
multi-ancestry
triglyceride measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.02
p 5.0e-11
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
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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