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Chunk #12 — Results — Independent secondary signals at known loci

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Discovery of novel heart rate-associated loci using the Exome Chip.
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jointly independent associated variants. Hence, we identified two distinct signals of association at each of these four known HR loci. However, the published SNV at the ACHE locus (rs13245899) is not covered on the Exome Chip, or by any proxies (Supplementary Material, Table S1), so the GCTA analysis does not include the known variant. As we are not able to condition on the unavailable published SNV and formally test association jointly with the known SNV, we are unable to statistically confirm the total number of independent signals at the ACHE locus.