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Mitochondrial DNA copy number

DGUOK-AS1 · rs62641680

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 395,718 British, Irish, Other White, South Asian, African ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0903 lower (95% confidence interval 0.078-0.103); p = 5 × 10⁻⁴⁷.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 2, band 2p13.1 — a synonymous change in DGUOK-AS1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Mitochondrial DNA copy number compared to the general population.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Mitochondrial DNA copy number.

G/G Published research associates this genotype with typical/baseline likelihood of Mitochondrial DNA copy number — no copies of the reported risk allele.

Source

GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia

Chong M, Mohammadi-Shemirani P, Perrot N, Nelson W, Morton R, Narula S, Lali R, Khan I, Khan M, Judge C, Machipisa T, Cawte N

and 4 more — show all

O'Donnell M, Pigeyre M, Akhabir L, Paré G

eLife · 2022 · PMID 35023831 · open access

Questions about rs62641680

What is rs62641680?

rs62641680 is a single position in the genome, in or near the DGUOK-AS1 gene. Published research associates it with mitochondrial dna copy number. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs62641680 mean I will get this?

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.

Where does the information about rs62641680 come from?

GWAS Catalog, eLife 2022, PMID:35023831. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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 copy number (rs62641680). MyGeneLog™. https://www.mygenelog.com/variants/rs62641680

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