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Freckling & sun sensitivity

IRF4 · rs12203592

Where this position leads

Condition: Sun Sensitivity, Freckling and Skin Cancer Risk

Solid lines are connections this site curates. Dashed lines mean the two ends share a research paper — worth knowing, and not a claim that one explains the other.

What ClinVar records

Classification Affects for Skin/hair/eye pigmentation, variation in, 8; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2015-07-21. ClinVar record 160346 NM_002460.4(IRF4):c.492+386C>T

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.

What each result means

C/C Typical IRF4 activity in published research — no added association with freckling from this variant.

C/T One copy of the variant. Published research associates this genotype with a somewhat higher likelihood of freckling and sun sensitivity.

T/T Published research associates this genotype with a meaningfully higher likelihood of freckling, lighter skin/hair pigmentation, and increased sun sensitivity.

Regardless of genotype, sun protection habits matter — this variant is about likelihood of freckling, not a substitute for skin-cancer screening advice from a doctor.

Source

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

Han J, Kraft P, Nan H, Guo Q, Chen C, Qureshi A, Hankinson SE, Hu FB, Duffy DL, Zhao ZZ, Martin NG, Montgomery GW

and 5 more — show all

Hayward NK, Thomas G, Hoover RN, Chanock S, Hunter DJ

PLoS genetics · 2008 · PMID 18483556 · open access

What people read about alongside this

Skin, sun and hair13 Vitamins and nutrient levels1 Blood sugar and insulin1 Anxiety and worry1

Papers in Europe PMC whose title or abstract names both this rsID and that subject. A shared paper means somebody wrote about the two together — it is not a claim that this position explains the subject.

Questions about rs12203592

What is rs12203592?

rs12203592 is a single position in the genome, in or near the IRF4 gene. Published research associates it with freckling & sun sensitivity. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12203592 linked to?

On MyGeneLog this position is linked to Sun Sensitivity, Freckling and Skin Cancer Risk. The research behind each link, and its sources, are set out on that condition page.

What do people read about alongside rs12203592?

Subjects that appear in the title or abstract of the same papers as this rsID include skin, sun and hair (13 papers), vitamins and nutrient levels (1 papers), blood sugar and insulin (1 papers), anxiety and worry (1 papers). A shared paper means somebody wrote about the two together; it is not a claim that this position explains the topic.

Does having rs12203592 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 rs12203592 come from?

Han et al. 2008, PLOS Genetics — a genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PMID 18483556. 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.

Freckling & sun sensitivity (rs12203592). MyGeneLog™. https://www.mygenelog.com/variants/rs12203592

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