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Skin color (Fitzpatrick scale)

HERC2 · rs117201485

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.

What the study found

Who was studied 4,933 Iberian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.212 higher (95% confidence interval 0.15-0.27); p = 4 × 10⁻¹¹.

How common The A allele had a frequency of about 6% in the people studied.

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

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Skin color (Fitzpatrick scale) compared to the general population.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Skin color (Fitzpatrick scale).

G/G Published research associates this genotype with typical/baseline likelihood of Skin color (Fitzpatrick scale) — no copies of the reported risk allele.

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 rs117201485

What is rs117201485?

rs117201485 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 rs117201485 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 rs117201485 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

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Skin color (Fitzpatrick scale) (rs117201485). MyGeneLog™. https://www.mygenelog.com/variants/rs117201485

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