MAGI2 and Cowden disease: Therefore, in order to define the role of this intronic variant in CD pathogenesis, we scrutinized the genomic region around rs6962966 and found that, apart from the coding gene MAGI2, the region also harbors RP4-587D13.2, a long RNA transcript represented by a cluster of expressed sequence tags (ESTs) covering 721 bp that maps 3,9 kb upstream (centromeric) of the CD-associated SNP.