Fig. 2: Comparison of previously unknown and known lead variants in loci identified in the 15 studied diseases. | Nature

Fig. 2: Comparison of previously unknown and known lead variants in loci identified in the 15 studied diseases.

From: FinnGen provides genetic insights from a well-phenotyped isolated population

Fig. 2: Comparison of previously unknown and known lead variants in loci identified in the 15 studied diseases.

a, Case prevalence and counts in FinnGen, the EstBB and the UKBB. The phenotypes are sorted on the basis of FinnGen prevalence. b, Distribution of minor AFs in known (red) and new (blue) loci in the NFSEE population. c, Distribution of AF enrichment between Finland and other Northwestern European populations in gnomAD (excluding Estonia and Sweden). The x axis represents enrichment bins. d, AFs of 25 replicated genome-wide significant (in FinnGen discovery) new low-frequency (<5% in NFSEE populations) variants in FinnGen, the EstBB and the UKBB. The dotted line indicates the same variants and no line means absence of the variant in other biobanks.

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