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Who was studied 235,256 European ancestry individuals; replicated in 100,764 European ancestry individuals.
The effect
The reported allele is T; the catalogue records no effect size
; p = 1 × 10−54.
How common The T allele had a frequency of about 56% in the people studied.
Where it sits Chromosome 6, band 6p22.2 — in an intron of CARMIL1.
What each result means
C/CNo copy of the version the research linked to Platelet count. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Platelet count. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Platelet count. That is the strongest link of the three results. A link in a study is not a diagnosis.
American journal of human genetics · 2021 · PMID 34469753
Questions about rs214053
What is rs214053?
rs214053 is a single position in the genome, in or near the CARMIL1 gene. Published research associates it with platelet count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs214053 linked to?
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
Does having rs214053 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 rs214053 come from?
GWAS Catalog, American journal of human genetics 2021, PMID:34469753. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
1 171122110Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity1Meta AI0Microsoft · Copilot1Amazon2Apple2China (ByteDance, Huawei, Baidu…)1ByteDance (Doubao)1Others10Total17Counted 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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