Functional prediction of identified POMC rare variants.

5′ UTR: transcription factors (TFs) were queried using DNA sequences harboring variants in the 5′ untranslated regions (5' UTRs) against the Transcription Element Search System.Coding Region: potential functional and structural changes caused by missense variants in coding regions were predicted by the program PolyPhen.3' UTR: microRNAs targeting 3′ untranslated region (3' UTR) sequences containing variants were predicted by program TargetScan, and changes in minimal free energy (mfe) due to mutations are presented in parentheses.PhyloP score or evolutionary conservation score: calculated by the program PhyloP, which is built into the UCSC genome browser based on multiple alignments of 46 vertebrate species.