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Mitochondrial DNA heteroplasmy (chrM:302:A:AC case-only heteroplasmy)

MGAM · rs62475516

What the study found

Who was studied 65,137 European ancestry individuals, 431 East Asian ancestry individuals, 1,527 Central Asian ancestry individuals, 186 Hispanic or Latin American individuals, 958 African American or Afro-Caribbean individuals, 261 Greater Middle Eastern (Middle Eastern, North African or Persian) individuals.

The effect Each copy of the A allele shifted the measure 0.0715 higher (95% confidence interval 0.052-0.091); p = 8 × 10−13.

How common The A allele had a frequency of about 93% in the people studied.

Where it sits Chromosome 7, band 7q34 — inside MGAM.

What each result means

A/A Two copies of the version the research linked to Mitochondrial DNA heteroplasmy (chrM:302:A:AC case-only heteroplasmy). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Mitochondrial DNA heteroplasmy (chrM:302:A:AC case-only heteroplasmy). That is a smaller link than two copies.
G/G No copy of the version the research linked to Mitochondrial DNA heteroplasmy (chrM:302:A:AC case-only heteroplasmy). This is the starting point the study compared everyone against.
Source

Questions about rs62475516

What is rs62475516?

rs62475516 is a single position in the genome, in or near the MGAM gene. Published research associates it with mitochondrial dna heteroplasmy (chrm:302:a:ac case-only heteroplasmy). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs62475516 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 rs62475516 come from?

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.

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Mitochondrial DNA heteroplasmy (chrM:302:A:AC case-only heteroplasmy) (rs62475516). MyGeneLog™. https://www.mygenelog.com/variants/rs62475516

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