rs3758225
This is a downstream gene variant variant in the POLR1E gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of glyoxylate reductase/hydroxypyruvate reductase in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.07
p 3.0e-22
N 47,745
Large GWAS
European
About POLR1E
Predicted to enable DNA binding activity and RNA polymerase I general transcription initiation factor binding activity. Involved in nucleolar large rRNA transcription by RNA polymerase I and transcription initiation at RNA polymerase I promoter. Located in fibrillar center and nucleoplasm. Part of RNA polymerase I complex. [provided by Alliance of Genome Resources, Jul 2025]
View all POLR1E variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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