TSHR and congenital hypothyroidism: Additional independent signals were identified among several loci based on GWAS results in the meta-analysis and LD information in the HUNT study, including two rare variants rs546738875 and rs145153320 at the B4GALNT3 locus and two rare missense variants TSHR p.A553T (rs121908872) and TSHR p.R609Q (rs139352934), which have been observed to be associated with congenital hypothyroidism in previous family studies36,37.