rs260643 is located in a transcription factor binding site in a region of open chromatin within intron 5 of EDAR. Rare protein-coding variants in EDAR have been demonstrated to cause both recessive and dominant forms of ectodermal dysplasia (OMIM:224900, OMIM:129490), and acne risk allele of rs260643 itself has been reported to be associated with hair curl in a GWAS in Japanese women19,20. The gene discussed is EDAR; the disease is ectodermal dysplasia syndrome.