Fig. 5

Prevalence and differentiation of Mendelian disease variants across populations. a Allele frequency spectrum of Mendelian-inherited disease variants. Mutations are grouped into five categories by their severity (see “Population and ancestry assignment”). b Rareness and population and ancestry differentiation of Mendelian-inherited disease variants. c An example of a pathogenic variant (rs78838117) that shows high DAF in some Southeast populations such as Bateq people (DAF = 0.33), Jakun people (DAF = 0.15), and Mendriq people (DAF = 0.125) in Malaysia. The corresponding PGG.SNV link is https://www.pggsnv.org/searchinfo.html?key=11-2930440-G-A. d An example of a pathogenic variant (rs41469351) that shows high DAF in some West Africa populations such as the Gambian people (DAF = 0.36). The corresponding PGG.SNV link is https://www.pggsnv.org/searchinfo.html?key=3-46412262-C-T. e An example of a variant (rs12917189) that shows large differentiation between Africans and non-Africans. The corresponding PGG.SNV link is https://www.pggsnv.org/searchinfo.html?key=15-43023482-T-C. f An example of a variant (rs10828415) that shows large differentiation between East Asian and other ancestral populations. The corresponding PGG.SNV link is https://www.pggsnv.org/searchinfo.html?key=10-23482850-G-A