rs76599088

This variant is located in the MGME1 gene.

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GWAS Catalog Trait Associations (1)

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

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 0.12

p 5.0e-10

N 68,500

Large GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

6 submitters2 publications

not provided; not specified; Mitochondrial DNA depletion syndrome 11

View on ClinVar →

About MGME1

The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

View all MGME1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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