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Its strongest genetic-study result is p = 10−8, with 1 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 349,856 European ancestry individuals, 82,810 East Asian ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.0145 lower (95% confidence interval 0.0094-0.0196); p = 2 × 10−8.
Where it sits Chromosome 3, band 3p13 — in an intron of MITF.
What each result means
C/CTwo copies of the version the research linked to Neutrophil count. 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 Neutrophil count. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Neutrophil count. This is the starting point the study compared everyone against.
rs62251009 is a single position in the genome, in or near the MITF gene. Published research associates it with neutrophil 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 rs62251009 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 rs62251009 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 rs62251009 come from?
GWAS Catalog, Nature genetics 2021, PMID:34594039. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 22Reads by AI crawlersClaude0ChatGPT0Google · Gemini0Perplexity0Meta AI0Microsoft · Copilot0Amazon0Apple0China (ByteDance, Huawei, Baidu…)0Others2Total2Counted 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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