rs56069439
This is a regulatory region variant variant in the ANKLE1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mitochondrial DNA measurement
Chong M et al. “GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.” Elife 11 (2022)
Allele A
OR 0.03
p 2.0e-32
N 395,718
Large GWAS
European, South Asian, African unspecified
breast cancer
Jia G et al. “Genome-wide association analyses of breast cancer in women of African ancestry identify new susceptibility loci and improve risk prediction.” Nature Genetics 56(5):819-826 (2024)
Allele A
OR 1.13
p 1.0e-11
N 40,138
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
breast carcinoma
Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele A
OR 0.04
p 9.0e-9
N 139,274
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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.
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