Fig. 4: Distribution of annotations of lead, rare, pQTL, noncoding variants compared with all variants tested. | Nature Genetics

Fig. 4: Distribution of annotations of lead, rare, pQTL, noncoding variants compared with all variants tested.

From: Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels

Fig. 4

Proportion of variants in sets of lead variants (n = 343; dark blue) compared with all variants tested (N = 1,367,793; light blue), if the variant was annotated to the cognate gene. The P values are derived from a two-sided Fisher’s exact test. The 95% confidence interval (CI) proportions are shown by the whiskers. The text in emboldened red indicates a comparison with evidence of enrichment or depletion at P < 0.05/9, where 9 is the number of statistical tests. Noncognate distributions are presented in Extended Data Fig. 4.

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