SNPs located within the MSH5 gene (but non-rs3130484) were reported to be associated with various human diseases including neoplasia, reproductive disorders, immune deficiencies (selective IgA deficiency, common variable immune deficiency), and autoimmune diseases, such as systemic lupus erythematosus, Kawasaki disease, and T1D [36]. Here, MSH5 is linked to Kawasaki disease.