Fig. 5
From: Burden of Mendelian disorders in a large Middle Eastern biobank
Potential novel pathogenic variants associated with extreme quantitative traits in the study cohort. Shown are 39 variants predicted as being deleterious, for which there are at least two homozygotes and found to be associated with extreme phenotype (at > 95th percentile or < 5th percentile) in 58 quantitative phenotypes in the QBB data. Arrowheads indicate direction of association whether it is > 95th or < 5th percentiles. Highlighted in bold (red color) are two genes with effects supported by the literature as indicated in the main text