Gene Knowledge Graph
UTC
Standard

Eye color

HERC2 · rs112483884

Where this position leads

Condition: Eye Color and Pigmentation

rs112483884 Condition: Eye Color and Pigmentation Eye Color and Pigmentation Condition rs112483884 rs112483884 HERC2

What the study found

Who was studied 4,987 Iberian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.244 higher (95% confidence interval 0.17-0.31); p = 4 × 10−12.

How common The C allele had a frequency of about 13% in the people studied.

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

What each result means

C/C Two copies of the version the research linked to Eye color. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Eye color. That is a smaller link than two copies.
T/T No copy of the version the research linked to Eye color. This is the starting point the study compared everyone against.
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 rs112483884

What is rs112483884?

rs112483884 is a single position in the genome, in or near the HERC2 gene. Published research associates it with eye color. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs112483884 linked to?

On MyGeneLog this position is linked to Eye Color and Pigmentation. The research behind each link, and its sources, are set out on that condition page.

Does having rs112483884 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 rs112483884 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.

Eye color (rs112483884). MyGeneLog™. https://www.mygenelog.com/variants/rs112483884

← See all variants