Fig. 4

Global analysis of dbSNP using VVP. Columns are violin plots wherein the width (x-axis) of the shape represents a rotated kernel density plot. Boxplots lie within the violins with white dots denoting the median VVP score; solid black bars representing the interquartile range (IQR), and the thin black lines corresponding to 1.5 * IQR. The far left-hand (grey) column summarizes the results for the entirety of dbSNP. The remaining columns represent the data by ClinVar category. All variants were scored as heterozygotes (VVP Dominant model). All: entirety of dbSNP (155,062,628 variants, mean score: 60). valid: all variants with valid status in dbSNP (1,402,274 variants, mean score: 35). Pathogenic: all ClinVar pathogenic variants in dbSNP (33,693, mean score: 93). Benign: all ClinVar benign variants in dbSNP (21,443, mean score: 19). Likely Pathogenic: ClinVar variants annotated as likely pathogenic (7587, mean score: 92). Likely Benign: ClinVar variants annotated as likely benign (36,719, mean score: 41). Drug Interaction: dbSNP variants implicated in drug response (230, mean score: 45). Additional file 2: Figure S2 provides plots CADD and SIFT for the pathogenic and benign portions of dbSNP