rs943080
This is a intergenic variant variant in the POLR1C gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
brain attribute
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele T
OR 16.88
p 7.0e-64
N 33,748
Large GWAS
European
cerebral cortex area attribute
van der Meer D et al. “The genetic architecture of human cortical folding.” Science Advances 7(51):eabj9446 (2021)
Allele T
OR 10.50
p 8.0e-26
N 33,748
Large GWAS
European
age-related macular degeneration
Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)
Allele T
OR 1.15
p 9.0e-16
N 59,494
Large GWAS
multi-ancestry
Winkler TW et al. “Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.” Bmc Medical Genomics 13(1):120 (2020)
Allele T
OR 1.08
p 5.0e-8
N 105,248
Meta-analysisLarge GWAS
European
▶ClinVar annotation
not_provided
1 submitterAbout 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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