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Mitochondrial DNA heteroplasmy (chrM:16183:AC:A case-only heteroplasmy)

POLRMT · rs11085148

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 0.104 higher (95% confidence interval 0.072-0.136); p = 2 × 10−10.

How common The A allele had a frequency of about 52% in the people studied.

Where it sits Chromosome 19, band 19p13.3 — in an intron of POLRMT.

What each result means

A/A Two copies of the version the research linked to Mitochondrial DNA heteroplasmy (chrM:16183:AC:A 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:16183:AC:A 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:16183:AC:A case-only heteroplasmy). This is the starting point the study compared everyone against.
Source

Questions about rs11085148

What is rs11085148?

rs11085148 is a single position in the genome, in or near the POLRMT 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.

Does having rs11085148 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 rs11085148 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:16183:AC:A case-only heteroplasmy) (rs11085148). MyGeneLog™. https://www.mygenelog.com/variants/rs11085148

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