Integrating information about variant pathogenicity retrieved variants linked to monogenic disorders including PSEN1 with Alzheimer’s disease (AD) [87] (rs764971634, p.Ile437Val, P = 2 × 10−12), SQSTM1 and Paget’s disease [88] (rs104893941, p.Pro392Leu, P = 6 × 10−11 ), and HFE and disorders of iron metabolism [89] (rs1800562, p.Cys282Tyr, P = 1 × 10−178) (Fig. 1B; Additional file 2: Table S3). This evidence concerns the gene SQSTM1 and metabolic disease.