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Who was studied 67,034 European ancestry men; replicated in 8,715 European ancestry men, 9,793 men.
The effect
Each copy of the C allele shifted the measure 0.003 lower; p = 7 × 10−11.
How common The C allele had a frequency of about 13% in the people studied.
Where it sits Chromosome 16, band 16q23.2 — in an intron of CMC2.
What each result means
C/CTwo copies of the version the research linked to Mosaic loss of chromosome Y (Y chromosome dosage). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Mosaic loss of chromosome Y (Y chromosome dosage). That is a smaller link than two copies.
T/TNo copy of the version the research linked to Mosaic loss of chromosome Y (Y chromosome dosage). This is the starting point the study compared everyone against.
Nature genetics · 2017 · PMID 28346444 · open access
Questions about rs12448368
What is rs12448368?
rs12448368 is a single position in the genome, in or near the CENPN gene. Published research associates it with mosaic loss of chromosome y (y chromosome dosage). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12448368 linked to?
On MyGeneLog this position is linked to Mosaic Loss of Chromosome Y. The research behind each link, and its sources, are set out on that condition page.
Does having rs12448368 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 rs12448368 come from?
GWAS Catalog, Nature genetics 2017, PMID:28346444. 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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Quoting this page
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Mosaic loss of chromosome Y (Y chromosome dosage) (rs12448368). MyGeneLog™. https://www.mygenelog.com/variants/rs12448368