rs9903862

This variant is located in the ATAD5 gene.

GWAS Catalog Trait Associations (2)

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

mitochondrial heteroplasmy measurement

Allele G
OR 0.05
p 8.0e-9
N 68,500
Large GWAS
multi-ancestry

hypothyroidism

Allele A
OR 0.03
p 2.0e-8
N 2,444,128
Large GWAS
multi-ancestry

ClinVar annotation

Benign★★★
3 submitters2 publications

not provided; ATAD5-related disorder

View on ClinVar →

About ATAD5

Enables DNA clamp unloader activity. Involved in positive regulation of DNA replication and positive regulation of cell cycle G2/M phase transition. Part of Elg1 RFC-like complex. Biomarker of neurilemmoma. [provided by Alliance of Genome Resources, Jul 2025]

View all ATAD5 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

Sign in to join the discussion.

Loading comments…