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Who was studied 275 African American or Afro-Caribbean cases, 121,450 African American or Afro-Caribbean controls, 715 European ancestry cases, 450,257 European ancestry controls.
The effect
Each copy of the G allele shifted the measure 3.05 lower (95% confidence interval 3.02-3.08); p = 8 × 10−13.
How common The G allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 3, band 3p24.1 — in an intron of NEK10.
What each result means
A/ANo copy of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Hypertrophic obstructive cardiomyopathy (PheCode 425.11). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs186052913
What is rs186052913?
rs186052913 is a single position in the genome, in or near the NEK10 gene. Published research associates it with hypertrophic obstructive cardiomyopathy (phecode 425.11). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs186052913 linked to?
On MyGeneLog this position is linked to Hypertrophic Obstructive Cardiomyopathy. The research behind each link, and its sources, are set out on that condition page.
Does having rs186052913 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 rs186052913 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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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