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. 2021 Aug 10;597(7877):527–532. doi: 10.1038/s41586-021-03855-y

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© The Author(s), under exclusive licence to Springer Nature Limited 2021

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Extended Data Fig. 2 — a, The number of genes (y-axis) with at least N rare (MAF >0.01) protein-truncating variant (PTV) carriers (x-axis) in the cohort. Colours correspond to heterozygous (Het), putative compound heterozygous plus homozygous/hemizygous carriers (comp. het), and exclusively homozygous/hemizygous carriers (recessive). b, Distribution of the directions of effect for rare (MAF <0.1%) non-synonymous variant associations with quantitative phenotypes. Only phenotypes with at least five significant non-synonymous variant associations (P ≤ 2 × 10⁻⁹) in a given gene were considered.