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Who was studied 411 Japanese ancestry cases, 2,158 Japanese ancestry controls; replicated in 219 Japanese ancestry cases, 3,770 Japanese ancestry controls.
The effect
Each copy of the G allele carried 1.77 times the odds of Takayasu arteritis (95% confidence interval 1.48-2.11); p = 3 × 10−10.
How common The G allele had a frequency of about 80% in the people studied.
Where it sits Chromosome 21, band 21q22.2 — between genes, 30.7 kb from RPL23AP12.
What each result means
A/ANo copy of the version the research linked to Takayasu arteritis. This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Takayasu arteritis. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Takayasu arteritis. That is the strongest link of the three results. A link in a study is not a diagnosis.
Proceedings of the National Academy of Sciences of the United States of America · 2018 · PMID 30498034
Questions about rs4817988
What is rs4817988?
rs4817988 is a single position in the genome, in or near the near PSMG1 gene. Published research associates it with takayasu arteritis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs4817988 linked to?
On MyGeneLog this position is linked to Takayasu Arteritis. The research behind each link, and its sources, are set out on that condition page.
Does having rs4817988 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 rs4817988 come from?
GWAS Catalog, Proc Natl Acad Sci U S A 2018, PMID:30498034. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
3 34218123116Reads by AI crawlersClaude0ChatGPT2Google · Gemini0Perplexity1Meta AI8Microsoft · Copilot1Amazon2Apple3China (ByteDance, Huawei, Baidu…)1ByteDance (Doubao)1Others16Total34Counted 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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