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Its strongest genetic-study result is p = 10−25, with 3 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 408,112 British individuals.
The effect
Each copy of the A allele shifted the measure 0.0234 higher (95% confidence interval 0.019-0.028); p = 3 × 10−25.
How common The A allele had a frequency of about 42% in the people studied.
Where it sits Chromosome 3, band 3p13 — in an intron of MITF.
What each result means
A/ATwo copies of the version the research linked to Hemoglobin. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/COne copy of the version the research linked to Hemoglobin. That is a smaller link than two copies.
C/CNo copy of the version the research linked to Hemoglobin. This is the starting point the study compared everyone against.
rs17006441 is a single position in the genome, in or near the MITF gene. Published research associates it with hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs17006441 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 rs17006441 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 rs17006441 come from?
GWAS Catalog, Cell 2020, PMID:32888494. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 1311227Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity1Meta AI0Microsoft · Copilot1Amazon2Apple2China (ByteDance, Huawei, Baidu…)0Others7Total13Counted 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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