Functional studies, such as gene knockout models, cellular assays or CRISPR‐mediated gene editing, will be essential in the future to experimentally confirm the roles of the identified genes (e.g., AC007283.5, DEF6, PLEKHM1, CERS2, CRHR1‐IT1 and KANSL1‐AS1) in the pathogenesis of T1D and SS. The gene discussed is DEF6; the disease is type 1 diabetes mellitus.