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Skin color (Fitzpatrick scale)

HERC2 · rs7403279

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10⁻⁴⁴, 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 4,933 Iberian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.196 higher (95% confidence interval 0.17-0.22); p = 3 × 10⁻⁴⁴.

How common The T allele had a frequency of about 40% in the people studied.

Where it sits Chromosome 15, band 15q13.1 — in an intron of HERC2.

What each result means

C/C No copy of the version the research linked to Skin color (Fitzpatrick scale). This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Skin color (Fitzpatrick scale). That is a smaller link than two copies.

T/T Two copies of the version the research linked to Skin color (Fitzpatrick scale). That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort

Farré X, Blay N, Cortés B, Carreras A, Iraola-Guzmán S, de Cid R

Genes · 2023 · PMID 36672889 · open access

Questions about rs7403279

What is rs7403279?

rs7403279 is a single position in the genome, in or near the HERC2 gene. Published research associates it with skin color (fitzpatrick scale). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs7403279 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 rs7403279 come from?

GWAS Catalog, Genes 2023, PMID:36672889. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Skin color (Fitzpatrick scale) (rs7403279). MyGeneLog™. https://www.mygenelog.com/variants/rs7403279

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