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. 2019 Dec 10;9:18758. doi: 10.1038/s41598-019-55109-7

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© The Author(s) 2019

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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Significance and genotype effects of MTL-associated SNVs. Colors are used to delineate each SNV. The dark-to-light color gradient indicates low-to-high p values (raw p values from each test). The value of 1 × 10⁻⁷ (E-07) corresponds to FDR threshold of 0.1. Family tests with Merlin only accounted for coding regions, therefore no p-value for the SNV at chr5q was available for this test. The DSCAM gene was identified with six SNVs (rs11701674, rs28412810, rs11700591, rs62237637, rs11702319), which, however, were linked and showed similar patterns represented here with rs11701674 only. Boxplots show MTL values for each individual (in all the samples, or in children or parent only), depending on the amount of minor alleles for each SNV in the genotype. Significant MTL differences between genotypes are highlighted with asterisks. All the SNVs show consistent effect in parents and in children, with the minor allele of SNV at chr5q having negative, while that of the other three SNVs having positive association with MTL.