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Who was studied 216 Korean ancestry cases, 296 Korean ancestry controls.
The effect
Each copy of the C allele carried 2.89 times the odds of Moyamoya disease (95% confidence interval 2.08-4.0); p = 2 × 10−10.
How common The C allele had a frequency of about 40% in the people studied.
Where it sits Chromosome 17, band 17q25.3 — between genes, 12.9 kb from NPTX1.
What each result means
C/CTwo copies of the version the research linked to Moyamoya disease. 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 Moyamoya disease. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Moyamoya disease. This is the starting point the study compared everyone against.
rs7211327 is a single position in the genome, in or near the near NPTX1 gene. Published research associates it with moyamoya disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs7211327 linked to?
On MyGeneLog this position is linked to Moyamoya Disease. The research behind each link, and its sources, are set out on that condition page.
Does having rs7211327 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 rs7211327 come from?
GWAS Catalog, Journal of human genetics 2023, PMID:37365321. 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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