MC1R · rs11547464
Where this position leads
Condition: Hair Color
Strength of the evidence
Its strongest genetic-study result is p = 10−308, with 6 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 39,397 British ancestry blond hair individuals, 283,920 British ancestry brown or black hair individuals.
The effect The reported allele is A; the catalogue records no effect size ; p = 3 × 10−50.
How common The A allele had a frequency of about 1% in the people studied.
Where it sits Chromosome 16, band 16q24.3 — a missense change in MC1R.
What ClinVar records
Classification
Conflicting classifications of pathogenicity for Melanoma, cutaneous malignant, susceptibility to, 5; criteria provided, conflicting classifications (1 of 4 stars, 10 submitters), last evaluated 2026-01-21.
ClinVar record 239153 NM_002386.4(MC1R):c.425G>A (p.Arg142His)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
How common each version is
AG
A 0.5% · G 99.5%
A 0.3% · G 99.7%
A 0.6% · G 99.4%
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. No Korean figure for this position yet.
rs11547464 is a single position in the genome, in or near the MC1R gene. Published research associates it with blond 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, Nat Commun 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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Blond vs. brown/black hair color (rs11547464). MyGeneLog™. https://www.mygenelog.com/variants/rs11547464