rs12203592

A SNP in the IRF4 gene on chromosome 6. Its most notable genotype is C;T: Primarily in Europeans; likely presence of freckles, brown hair and high sensitivity of skin to sun exposure.

Gene
IRF4
Location
Chr 6396,321 (GRCh38)
Highest magnitude
2.0Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
5%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon on affy axiom dataTypical · 0.090% of people
  2. C;TMost notableNot ratedPrimarily in Europeans; likely presence of freckles, brown hair and high sensitivity of skin to sun exposure.Worth knowing · 2.09% of people
  3. T;TNot ratedPrimarily in Europeans; more likely presence of freckles, brown hair and high sensitivity of skin to sun exposureWorth knowing · 2.01% of people

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 7 HapMap populations.

  • AverageC;C 90% C;T 9% T;T 1%
  • European ancestry (Utah)C;C 71% C;T 27% T;T 3%
  • Han Chinese (Beijing)C;C 100% C;T 0% T;T 0%
  • Japanese (Tokyo)C;C 100% C;T 0% T;T 0%
  • Yoruba (Nigeria)C;C 100% C;T 0% T;T 0%
  • African ancestry (Southwest US)C;C 91% C;T 7% T;T 2%
  • Mexican ancestry (Los Angeles)C;C 86% C;T 12% T;T 2%
  • TuscanC;C 81% C;T 18% T;T 1%

Notes

From SNPedia

Notes

plos rs12203592 showed the largest allele frequency difference between the Irish individuals and those individuals of Northern, Central European and Eastern European descent associated with hair color rs12896399 rs12203592 rs12203592 for freckling was previously associated with hair color, eye color, and tanning response to sunlight A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Squamous Cell Carcinoma

T;T

see discussion at rs12203592; also

References

Source and license

Adapted from rs12203592 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.