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. 2023 Feb 15;31(6):638–647. doi: 10.1038/s41431-023-01302-2

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© The Author(s), under exclusive licence to European Society of Human Genetics 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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Fig. 1 — We included in the analysis 416,522 samples after excluding individuals who are not white-European, do not meet the inclusion criteria, or provided inconsistent answers. Blue dashed lines indicates the replication sample which was used for the discovery and mega-analysis. Associations identified in the discovery sample are only replicated using the exome replication sample and not the secondary-replication sample. The replication sample consists of individuals included in UK Biobank Release 1. For replication, permutation is used to estimate empirical p-values adjusting for the number of variants/genes and phenotypes brought to replication. There is no overlap of individuals in the discovery, replication, and secondary-replication samples. All samples were used in the single-variant analysis and only those samples highlighted in light blue were used in the rare-variant aggregate analysis. There was no available replication sample for the mega-analysis of rare-variant aggregated association testing.