In line with this evidence, rare coding variants including rs754834233 or rs138047593 impact on AD risk reducing BACE1 recycling and causing early endosome enlargement recapitulating the same phenotype of Bin1 knockdown (Perdigão et al., 2021; Vardarajan, Ghani, et al., 2015). This evidence concerns the gene BACE1 and Alzheimer disease.