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. 2020 Jul 7;107(2):251–264. doi: 10.1016/j.ajhg.2020.06.009

Figure 1.

Figure 1

Summary Statistics and Annotation of Variants Captured by Exome Sequencing of 6,716 SWAI Individuals

(A) Site frequency distribution of 1,208,812 autosomal variants according to the predicted functional effect class.

(B) The number of variants that are previously reported in gnomAD or dbSNP databases or unreported as a function of alternate allele count.

(C) The proportion of variants that are previously reported in gnomAD or dbSNP databases or unreported stratified by predicted functional effect. pLOF, predicted loss-of-function; NONSYN, nonsynonymous; SYN, synonymous.