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Its strongest genetic-study result is p = 10−61, with 12 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 2,853 European ancestry cases and 37,405 European ancestry controls; replicated in 1,827 European ancestry cases and 2,181 European ancestry controls.
The effect
Each copy of the T allele carried 1.41 times the odds of Vitiligo (95% confidence interval 1.33-1.49); p = 3 × 10−33.
How common The T allele had a frequency of about 73% in the people studied.
Where it sits Chromosome 16, band 16q24.3 — in an intron of DEF8.
How common each version is
CT
KoreanKRGDB
C 16.0% · T 84.0%
KoreanKorea4K
C 16.0% · T 84.0%
Japanese ToMMo
C 10.0% · T 90.0%
Vietnamese
C 32.7% · T 67.3%
World gnomAD
C 29.3% · T 70.7%
World 1000 Genomes
C 27.9% · T 72.1%
World TOPMed
C 29.1% · T 70.9%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
C/CNo copy of the version the research linked to Vitiligo. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Vitiligo. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Vitiligo. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2016 · PMID 27723757 · open access
Questions about rs4268748
What is rs4268748?
rs4268748 is a single position in the genome, in or near the MC1R gene. Published research associates it with vitiligo. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs4268748 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 rs4268748 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 rs4268748 come from?
GWAS Catalog, Nat Genet 2016, PMID:27723757. 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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