Rare protein-coding variation and the genetic architecture of height in >1.4 million individuals

Highly heritable, polygenic, and easily measured, adult height has long been the model trait in human genetics. While the landscape of height-associated common genetic variation has been studied extensively, rare variation remains relatively unexplored. Using rare protein-altering variants in a discovery set of 826,066 exomes, we identify 207 height-associated genes - 98% of which replicate in an additional 624,567 individuals. The rarest and most deleterious class of variation, singleton (frequency