rs2235544
rs2235544 is a common intron 3 variant in DIO1, the gene encoding type 1 iodothyronine deiodinase, the enzyme that converts thyroxine (T4) to active triiodothyronine (T3). It is a non-coding variant that reached genome-wide significance for the free T3-to-free T4 ratio without affecting TSH, with the C allele tracking higher DIO1 activity (more T3 generated per T4) and the alternate allele tracking relatively reduced conversion. It is used alongside DIO2 rs225014 as a marker of how efficiently T4 is converted to T3.
Traits rs2235544 reads
Gene
Reference databases
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