rs12203592
rs12203592 is a GRCh38 C/G/T regulatory marker in an IRF4 enhancer. In multiple European-ancestry studies, each T copy was linked to higher average freckling. T disrupts TFAP2A binding and reduces IRF4 and TYR expression, but the genotype does not determine a personal freckle count. The unstudied G allele is outside the reviewed freckling map.
Traits rs12203592 reads
Gene
Reference databases
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