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. 2024 Jan 26;6(2):226–237. doi: 10.1038/s42255-023-00970-0

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© The Author(s) 2024

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Extended Data Fig. 5 — Shown is a dissection of the gene-level associations for MC4R. (A) Mask-level Firth’s logistic regression analysis results for all variants in the mask are shown in the left column (“Total”) and for variants unique to the mask are shown in the right column (“Unique”). The details of the mask definition is described in the Methods. (B) A graphical plot of variants observed in MC4R within the 1/5 1% mask. Variants are coloured blue (if individual OR < 1) or red (OR > 1). Case (red) and control (blue) frequencies are shown below for each variant. # Var, number of variants in the association test; CAF, combined allele frequency; OR, odds ratio.