Extended Data Fig. 3: Common variants at IEM genes have metabolic and phenotypic consequences mimicking those observed in corresponding IEM.
From: Rare and common genetic determinants of metabolic individuality and their effects on human health
a) Rare mutations at the DBH and TH genes are known to cause the IEMs orthostatic hypotension (OMIM #223360, coloured in orange) and Segawa syndrome (OMIM #605407, coloured in blue). b) In this study, we found common variants at these genes that are associated with metabolic and phenotypic consequences mimicking those observed in the corresponding IEMs.
