rs1740073

This variant is located in the POLR1C gene.

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GWAS Catalog Trait Associations (1)

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

vascular endothelial growth factor A level

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele T

OR 0.23

p 3.0e-31

N 5,364

Large GWAS

European

Choi SH et al. “Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.” Plos Genetics 12(2):e1005874 (2016)

Allele T

OR 0.09

p 4.0e-17

N 13,312

Meta-analysisLarge 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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