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. Author manuscript; available in PMC: 2016 Jan 21.
Published in final edited form as: Pac Symp Biocomput. 2016;21:231–242.

Figure 3. Uncertainty in the disease risk conveyed by pathogenic variation.

Figure 3

Shown are the 81 pathogenic SNVs from ClinVar for hypertrophic cardiomyopathy with ExAc or ESP frequency data available. We computed a range of penetrance values for each variant by varying heterogeneity linearly in the range [0.001, 0.1]. Several variants have consistently low penetrance given their elevated non-reference allele frequency. Variants that were lower than the 50% penetrance cutoff throughout these simulations are colored in red.