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

AGK · rs80336838

What the study found

Who was studied 60,678 European ancestry individuals, 462 East Asian ancestry individuals, 1,379 Central Asian ancestry individuals, 196 Hispanic or Latin American individuals, 813 African American or Afro-Caribbean individuals, 251 Greater Middle Eastern (Middle Eastern, North African or Persian) individuals.

The effect Each copy of the G allele shifted the measure 0.0511 higher (95% confidence interval 0.037-0.065); p = 1 × 10−12.

How common The G allele had a frequency of about 86% in the people studied.

Where it sits Chromosome 7, band 7q34 — in an intron of AGK.

What each result means

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

Questions about rs80336838

What is rs80336838?

rs80336838 is a single position in the genome, in or near the AGK gene. Published research associates it with mitochondrial dna heteroplasmy (chrm:302:a:acc 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 rs80336838 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 rs80336838 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.

Quoting this page

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Mitochondrial DNA heteroplasmy (chrM:302:A:ACC case-only heteroplasmy) (rs80336838). MyGeneLog™. https://www.mygenelog.com/variants/rs80336838

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