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Chunk #14 — 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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two independent signals of association. At the ACHE locus, our secondary SNV (rs542137; ∼38 kb and r2 < 0.2 from the published SNV) is not in LD (r2 < 0.2) with the secondary SNV from UK Biobank (rs140367586; ∼659 kb and r2 < 0.2 from the published SNV). We are unable to clearly determine the number of distinct signals at the ACHE locus from our Exome Chip RR-interval discovery meta-analysis data, without the published SNV being covered on the Exome Chip. The low-frequency non-synonymous variant (rs41282820) at the known KIAA1755 locus is a new, secondary variant, with strong evidence of independent association, it does not overlap with other published findings.