rs35586766

This variant is located in the ANKLE1 gene.

▶

GWAS Catalog Trait Associations (1)

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

mitochondrial DNA measurement

Hägg S et al. “Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.” Human Genetics 140(6):849-861 (2021)

Allele A

OR 0.04

p 3.0e-16

N 295,150

Large GWAS

European

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)

Allele A

OR 0.04

p 3.0e-12

N 163,372

Large GWAS

multi-ancestry

About ANKLE1

Enables endonuclease activity. Involved in DNA damage response and protein export from nucleus. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all ANKLE1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…