Fig. 2.
Odds ratios with 95% confidence interval (CI) in hypertrophic cardiomyopathy (HCM) cases (n=240) compared with National Institute for Health Research Bioresource Rare Disease HCM project (BRRD) controls (n=6229). All = all rare variants. Nontruncating = missense, in-frame insertions and deletions, and other variants annotated as MODERATE impact by SNPEff. . Truncating = variants predicted to result in a truncated transcript (nonsense, frameshift, canonical splice site). Rare is defined as gnomAD minor allele frequency (MAF) <0.0001. Data plotted using log10 scale. Genes in which no rare variants were detected in cases have not been plotted. A single truncating variant in TCAP was found in cases and no truncating variants were detected in controls; this result is not significant when corrected for multiple testing.