rs79013471

This is a upstream gene variant variant in the ANKZF1 gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.20

p 3.0e-18

N 10,708

Large GWAS

European

platelet quantity

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele A

OR 0.09

p 7.0e-11

N 29,618

Large GWAS

European

About ANKZF1

Enables RNA endonuclease activity and catalytic activity, acting on a tRNA. Involved in cellular response to hydrogen peroxide; protein quality control for misfolded or incompletely synthesized proteins; and rescue of stalled ribosome. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all ANKZF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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