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Mitochondrial heteroplasmy measurement

BMP2 · rs2149642

What the study found

Who was studied 982,072 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.007 higher (95% confidence interval 0.005-0.009); p = 2 × 10−11.

How common The T allele had a frequency of about 78% in the people studied.

Where it sits Chromosome 20, band 20p12.3 — between genes, 112.5 kb from LINC01428.

What each result means

C/C No copy of the version the research linked to Mitochondrial heteroplasmy measurement. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Mitochondrial heteroplasmy measurement. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Mitochondrial heteroplasmy measurement. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2149642

What is rs2149642?

rs2149642 is a single position in the genome, in or near the BMP2 gene. Published research associates it with mitochondrial heteroplasmy measurement. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2149642 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 rs2149642 come from?

GWAS Catalog, Science advances 2021, PMID:33731350. 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 heteroplasmy measurement (rs2149642). MyGeneLog™. https://www.mygenelog.com/variants/rs2149642

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