We sought independent replication of our results using summary GWAS findings from two additional sources; the Danish iPSYCH Project (7783 ASD cases and 11359 controls) and a combined deCODE Collection (from Iceland plus a collection of individuals from Ukraine, Georgia and Serbia) and the ‘Study to Explore Early Development’ (SEED) (1369 ASD cases and 137308 controls). A detailed description of each cohort is provided in the Additional file 1.