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Chunk #25 — Results — Coding variants at HR loci

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Discovery of novel heart rate-associated loci using the Exome Chip.
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We only observed two such coding variants in two reported loci: CCDC141 and KIAA1755. The published CCDC141 coding variant was previously annotated as being non-synonymous (12), and is predicted to be damaging in our annotation (rs17362588; p.Arg935Trp). The coding SNV at KIAA1755 is the best proxy (r2 ∼ 1) for the published non-synonymous SNV (rs6127471) covered on the Exome Chip (Supplementary Material, Table S1). The original GWAS (12) had reported this signal as non-synonymous. Therefore, our Exome Chip analyses do not reveal any new evidence of likely causal coding variants at well-established HR loci.