Extended Data Fig. 1: Allele frequency comparisons between FinMetSeq and NFE from gnomAD.

a, Distribution of allelic frequencies between FinMetSeq and gnomAD NFE. The comparison of allele frequencies shows the excess of variants at higher frequency in Finland as a result of the multiple bottlenecks experienced in Finnish population history. b, Proportional site frequency spectra between FinMetSeq and gnomAD NFE by variant annotation class. In general, we find a depletion of the variants in the rarest frequency class, as well as enrichment of variants in the intermediate to common frequency range. The site frequency spectra were down-sampled to 18,000 chromosomes for each data set. c, Comparison of MAFs for trait-associated variants in FinMetSeq and NFE gnomAD. Plotted in the grey background is a two-dimensional histogram of variants with non-zero allele frequencies in both gnomAD and FinMetSeq but no trait associations. Variants associated with at least one trait are coloured and scaled inversely proportional to the logarithm of the association P value. Variants >10× enriched in FinMetSeq compared to NFE are pink, those <10× enriched are in blue. The dashed line is the line of equal frequency. Two-sided uncorrected P values are from a regression of trait on the count of alternative allele at each variant. The number of independent individuals used in each point is listed in Supplementary Table 5.