rs57192577

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

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GWAS Catalog Trait Associations (1)

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

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)

Allele C

OR 13.57

p 4.0e-9

N 43,151

Large GWAS

multi-ancestry

About AEN

Enables DNA exonuclease activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator and response to ionizing radiation. Located in nuclear membrane; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all AEN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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