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Who was studied 216 Korean ancestry cases, 296 Korean ancestry controls.
The effect
Each copy of the A allele carried 32.06 times the odds of Moyamoya disease (95% confidence interval 13.96-73.66); p = 3 × 10−16.
How common The A allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 17, band 17q25.1 — in an intron of SDK2.
What each result means
A/ATwo 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.
A/GOne copy of the version the research linked to Moyamoya disease. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Moyamoya disease. This is the starting point the study compared everyone against.
rs79994440 is a single position in the genome, in or near the SDK2 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 rs79994440 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 rs79994440 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 rs79994440 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.
0 131624Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity1Meta AI0Microsoft · Copilot6Amazon2Apple0China (ByteDance, Huawei, Baidu…)0Others4Total13Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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