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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
1 / 4
Its strongest genetic-study result is p = 10−12, with 2 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 110,850 African American or Afro-Caribbean individuals, 55,242 Hispanic or Latin American individuals, 6,249 East Asian ancestry individuals, 398,886 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.0207 lower (95% confidence interval 0.015-0.026); p = 8 × 10−13.
How common The C allele had a frequency of about 64% in the people studied.
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 estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed). 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 estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed). That is a smaller link than two copies.
T/TNo copy of the version the research linked to estimated glomerular filtration rate (eGFR, maximum, inv-norm transformed). This is the starting point the study compared everyone against.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs62250968
What is rs62250968?
rs62250968 is a single position in the genome, in or near the MITF gene. Published research associates it with estimated glomerular filtration rate (egfr, maximum, inv-norm transformed). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs62250968 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 rs62250968 come from?
GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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