rs4711751
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.
macular degeneration
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 0.10
p 5.0e-32
N 439,724
Major Consortium StudyLarge GWAS
European
cerebral cortex area attribute
Shadrin AA et al. “Vertex-wise multivariate genome-wide association study identifies 780 unique genetic loci associated with cortical morphology.” Neuroimage 244:118603 (2021)
Allele T
OR —
p 1.0e-17
N 35,657
Large GWAS
European
age-related macular degeneration
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 0.10
p 6.0e-15
N 442,030
Major Consortium StudyLarge GWAS
European
Yu Y et al. “Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.” Human Molecular Genetics 20(18):3699-709 (2011)
Allele T
OR 1.15
p 9.0e-9
N 6,728
Large GWAS
European
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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