Mutation severity spectrum of rare alleles in the human genome is predictive of disease type
Fig 1
Distribution of disease-associated genes and variants.
A) The number of ClinVar disease-associated genes with different types of variants. The non-SAV category combines the categories of nonsense, synonymous, noncoding, and indel. B) The number of variants of different types in ClinVar disease-associated genes. C) Venn diagram of genes with pathogenic SAVs from UniProt and ClinVar. D). Venn diagram of pathogenic variants from UniProt and ClinVar.