Fig. 4.

Missense mutation rs11316447 is a potential causal mutation in ADIPOQ. Worldwide distribution of rs11316447 generated by the Geography of Genetic Variants Browser⁷² (http://popgen.uchicago.edu/ggv/) shows that the T allele carried by 27% of ‡Khomani San individuals (pie chart outlined in black) is extremely rare throughout phase 3 of the 1000 Genomes⁶³, at a maximum of 0.5% in the Luhya population of Kenya. The diagram of ADIPOQ highlights the positions of the variant identified by SWIF(r) (rs6444174) and the nearby missense variant (rs11316447). These two variants are within 1 kb of each other, suggesting that the SWIF(r) signal at rs6444174 is tagging this missense variant