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Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Figure 1

Allele frequency spectrum in Finns and NFEs, demonstrating that Finns have proportionally more deleterious rare and low-frequency variants.

(A) Ratio of the number of LoF, missense and synonymous variants found in Finns versus NFEs with the ratios for LoF variants highlighted in red text and the ratios for synonymous variants in black. The p-values represent the probabilities of the excess of variable sites in Finns occurring by chance. The p-values in red represent the probabilities for the LoF variants, the p-values in blue represent the probabilities for the missense variants and the p-values in black represent the probabilities for the synonymous variants. (B) Percentage of variants that are LoF across the allele frequency spectrum, with the numbers indicating the percentage of LoF variants in Finns versus NFEs. The p-values represent the p-values from the hypergeometric test of whether the ratio of LoF variants differ from the ratio of synonymous variants in Finns compared to NFEs.

Figure 1