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Chunk #34 — Materials and Methods — Imputation and Association Study at the CYP2A6 Locus

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Haplotypes with copy number and single nucleotide polymorphisms in CYP2A6 locus are associated with smoking quantity in a Japanese population.
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To assess LD between rs11878604 and the classical functional alleles of the CYP2A6 gene, we simply extracted the seven missense SNPs in CYP2A6 from the reference panel. We assigned the known functional alleles to the haplotypes according to the pattern of the mutant alleles on the home page of the human CYP allele nomenclature committee (see URLs) and calculated frequencies in conjunction with the alleles at rs11878604.