rs2396083
This variant is located in the POLR1C gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Thyroid stimulating hormone level
Rand SA et al. “Genome-wide association study and polygenic risk prediction of hypothyroidism.” Nature Genetics 57(12):3007-3015 (2025)
Allele C
OR 0.09
p —
N 482,873
Large GWAS
European
Nielsen TR et al. “A genome-wide association study of thyroid stimulating hormone and free thyroxine in Danish children and adolescents.” Plos One 12(3):e0174204 (2017)
Allele C
OR 0.09
p 2.0e-10
N 1,680
Large GWAS
European
hematocrit
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 9.0e-70
N 408,112
Large GWAS
European
erythrocyte count
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 3.0e-63
N 408,112
Large GWAS
European
hemoglobin measurement
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 6.0e-61
N 408,112
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 G
OR 0.62
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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