CBFA2T3 · rs547859046
Where this position leads
Condition: Hair Color
Strength of the evidence
Its strongest genetic-study result is p = 10−30, with 1 associations in the GWAS Catalog.
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 15,731 British ancestry red hair individuals, 283,920 British ancestry brown or black hair individuals.
The effect The reported allele is G; the catalogue records no effect size ; p = 1 × 10−30.
How common The G allele had a frequency of about 0% in the people studied.
Where it sits Chromosome 16, band 16q24.3 — in an intron of CBFA2T3.
rs547859046 is a single position in the genome, in or near the CBFA2T3 gene. Published research associates it with red vs. brown/black hair color. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Hair Color. The research behind each link, and its sources, are set out on that condition page.
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.
GWAS Catalog, Nature communications 2018, PMID:30531825. 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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Red vs. brown/black hair color (rs547859046). MyGeneLog™. https://www.mygenelog.com/variants/rs547859046