Extended Data Fig. 3: Gene-based association testing of rare variants in UK Biobank. | Nature Genetics

Extended Data Fig. 3: Gene-based association testing of rare variants in UK Biobank.

From: Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

Extended Data Fig. 3

QQ-plot of aggregate variant association tests from 15,923 genes versus CAD in UK Biobank. Results presented here are for the SKAT-O test using the Mask 1 (‘lenient’) filter, which includes variants with minor allele frequency < 5% that are annotated as missense, frameshift, stop gain, stop loss or splice site. Results for all genes, tests and filters are in Supplementary Table 7. Details of masks and test are in Supplementary Table 6. The red dashed line indicates the Bonferroni threshold accounting for the number of genes tested. The gray dashed line indicates the null hypothesis (that is observed = expected under the null). The blue shaded area indicates the 95% confidence interval around the null.

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