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Mitochondrial DNA copy number

BANK1 · rs4698839

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.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

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

The effect Each copy of the T allele shifted the measure 0.0124 higher (95% confidence interval 0.0081-0.0167); p = 9 × 10⁻⁹.

How common The T allele had a frequency of about 45% in the people studied.

Where it sits Chromosome 4, band 4q24 — in an intron of BANK1.

What each result means

C/C No copy of the version the research linked to Mitochondrial DNA copy number. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Mitochondrial DNA copy number. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Mitochondrial DNA copy number. That is the strongest link of the three results. A link in a study is not a diagnosis.

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 rs4698839

What is rs4698839?

rs4698839 is a single position in the genome, in or near the BANK1 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 rs4698839 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 rs4698839 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Mitochondrial DNA copy number (rs4698839). MyGeneLog™. https://www.mygenelog.com/variants/rs4698839

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