rs12203592 IRF4
IRF4 variant. Strong association with blue eyes, blond hair, fair skin, and freckling in Europeans.
What is rs12203592?
rs12203592 is a single-nucleotide polymorphism (SNP) in the IRF4 gene (Interferon regulatory factor 4). Each person carries two copies, one from each parent, so a result is reported as a pair of letters such as TT. The table below describes what studies associate with each genotype; the association is statistical, across populations, and is not a diagnosis.
What does each rs12203592 genotype mean?
| Genotype | Association | What the evidence says | Confidence |
|---|---|---|---|
| TT | typical / lower | IRF4 variant. Strong association with blue eyes, blond hair, fair skin, and freckling in Europeans. | 82% |
| CT / TC | typical / lower | IRF4 carrier. Lighter pigmentation tendency. | 78% |
| CC | typical / lower | Ancestral IRF4 variant. | 80% |
How common is the T allele of rs12203592?
Minor-allele frequency by population (gnomAD / 1000 Genomes):
| European | 16.0% |
|---|---|
| East Asian | 0.1% |
| African | 0.1% |
| South Asian | 2.0% |
| Admixed American | 8.0% |
| Global | 5.0% |
Is rs12203592 on 23andMe and AncestryDNA chips?
Yes — it is genotyped directly on 23andMe V3, 23andMe V4, 23andMe V5, AncestryDNA V1, AncestryDNA V2. Orviva reads it from a raw-data export without imputation.
Sources
Upload your 23andMe, AncestryDNA or WeGene raw file → · Ask G2: “What is my genotype at rs12203592 and what does it mean for me?”
Genetic associations describe risk across populations, not a diagnosis for any one person. Most variants shift risk modestly and act alongside lifestyle, environment and other genes. Consumer DNA chips do not read every position and can be wrong at any single one. For general education only; talk to a clinician or genetic counsellor before acting on anything here, and never change a prescribed medicine without your prescriber.