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Standard

Blond vs. brown/black hair color

MC1R · rs11547464

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−308, with 6 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 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 2026-11-09 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
World gnomAD
A 0.5% · G 99.5%
World 1000 Genomes
A 0.3% · G 99.7%
World TOPMed
A 0.6% · G 99.4%

By ancestry gnomAD

East Asian
G 100.0%
European (non-Finnish)
A 0.7% · G 99.3%
African / African American
G 99.9%
South Asian
G 100.0%
Admixed American (Latino)
A 0.7% · G 99.3%
Middle Eastern
A 1.0% · G 99.0%
Finnish
G 100.0%
Ashkenazi Jewish
A 1.8% · G 98.2%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races. No Korean figure for this position yet.

What each result means

A/A Two copies of the version the research linked to Blond vs. brown/black hair color. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Blond vs. brown/black hair color. That is a smaller link than two copies.
G/G No copy of the version the research linked to Blond vs. brown/black hair color. This is the starting point the study compared everyone against.
Source

Quoting this page

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Blond vs. brown/black hair color (rs11547464). MyGeneLog™. https://www.mygenelog.com/variants/rs11547464

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