DGUOK · rs74874677
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 6,791 European ancestry individuals, 160 African American or Afro-Caribbean individuals, 111 Central Asian ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.576 lower (95% confidence interval 0.47-0.68); p = 3 × 10−25.
How common The A allele had a frequency of about 98% in the people studied.
Where it sits Chromosome 2, band 2p13.1 — a missense change in DGUOK.
What ClinVar records
Classification
Benign/Likely benign for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic, 1; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 16 submitters), last evaluated 2026-06-01.
ClinVar record 137082 NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
rs74874677 is a single position in the genome, in or near the DGUOK gene. Published research associates it with mitochondrial dna heteroplasmy (chrm:16183:ac:a case-only heteroplasmy). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
GWAS Catalog, Nature 2023, PMID:37587338. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Mitochondrial DNA heteroplasmy (chrM:16183:AC:A case-only heteroplasmy) (rs74874677). MyGeneLog™. https://www.mygenelog.com/variants/rs74874677