We also looked for evidence of enrichment of unobserved low-frequency variants by conducting haplotype analyses within known and novel loci, since haplotypes constructed from common SNPs may tag low-frequency variants that are enriched in the tails of the trait distributions, but are rarer in the general population. Using genotype data from the largest studies, three signals of association were observed for tails of height that exceeded conservative prior odds of association of one in 30,000: ID4 (Bayes factor: 118,839), LIN28B (Bayes factor: 105,478) and DLEU7 (Bayes factor: 66,599) (Supplementary Table 16). However, for all three loci, association signals were characterized by two clusters of haplotypes (both common and rare) and were not consistent with an enrichment of unobserved low-frequency causal variants in the distribution tails.
