rs17850455

This variant is located in the POLG2 gene.

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GWAS Catalog Trait Associations (2)

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 G
OR 0.09
p 2.0e-18
N 395,718
Large GWAS
European, South Asian, African unspecified
Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele G
OR 0.10
p 2.0e-8
N 163,372
Large GWAS
multi-ancestry

mitochondrial heteroplasmy measurement

Gupta R et al. “Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.” Nature 620(7975):839-848 (2023)
Allele C
OR 0.69
p 6.0e-15
N 7,062
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
10 submitters3 publications

not specified; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; not provided; Hereditary spastic paraplegia

View on ClinVar →

About POLG2

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]

View all POLG2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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