Fig. 5: Distribution of annotations of significant cognate aggregates of rare noncoding compared with all aggregates tested.

Proportion of aggregates in sets of lead variants (n = 125; dark blue) compared with all aggregates tested (N = 1,456,986; light blue). The P values are derived from a two-sided Fisher’s exact test. The 95% CI proportions are shown by the whiskers. The text in emboldened red indicates a comparison with evidence of enrichment or depletion at P < 0.05/10, where 10 is the number of statistical tests. Noncognate comparisons are presented in Extended Data Fig. 5.