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Its strongest genetic-study result is p = 10−12, 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 645 African American or Afro-Caribbean cases, 120,867 African American or Afro-Caribbean controls, 1,263 European ancestry cases, 449,492 European ancestry controls, 368 Hispanic or Latin American cases, 59,392 Hispanic or Latin American controls.
The effect
Each copy of the T allele shifted the measure 4.19 lower (95% confidence interval 4.18-4.2); p = 8 × 10−13.
How common The T allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 2, band 2q31.1 — in an intron of SP3.
What each result means
C/CNo copy of the version the research linked to Vitiligo (PheCode 694.1). This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Vitiligo (PheCode 694.1). That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Vitiligo (PheCode 694.1). That is the strongest link of the three results. A link in a study is not a diagnosis.
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access
Questions about rs550546168
What is rs550546168?
rs550546168 is a single position in the genome, in or near the SP3 gene. Published research associates it with vitiligo (phecode 694.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs550546168 linked to?
On MyGeneLog this position is linked to Vitiligo. The research behind each link, and its sources, are set out on that condition page.
Does having rs550546168 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 rs550546168 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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