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. 2020 Dec 4;11(12):1456. doi: 10.3390/genes11121456

Figure 1.

Figure 1

Haplotype phasing in CYP2B6. Inability to phase the rs3745274 (NC_000019.10:g.41006936G>T) and the rs2279343 (NC_000019.10:g.41009358A>G) to the correct allele can result in differences in *-haplotype assignment. Panel (A) shows the most common situation in individuals who are heterozygous for both variants, the CYP2B6*1/*6 diplotype. Panel (B) shows the alternative conformation where variants are located on opposing alleles leading to a CYP2B6*4/*9 diplotype. Both situations result in the same predicted CYP2B6 metabolizer phenotype (intermediate metabolizer). Conventional methods using linkage disequilibrium assume the variants to be located on the same allele, resulting in a CYP2B6*6 assignment. wt: Wild type.