Table 2.
Summary of genotyped CYP2D6 variants and associated phenotype
| Allele | SNP (RefSeq)a | Variant | CYP2D6 activity | Activity score valueb | Phenotype |
|---|---|---|---|---|---|
| CYP2D6*1 | NA | Wild type | Normal | 1 | EM |
| CYP2D6*2 | rs16947, rs1135840 | 2850C > T, 4180G > C | Normal | 1 | EM |
| CYP2D6*3 | rs35742686 | 2549delA | Inactive | 0 | EM |
| CYP2D6*4 | rs3892097 | 1846G > A, | Inactive | 0 | PM |
| CYP2D6*5 | NA | Full gene deletion | Inactive | 0 | PM |
| CYP2D6*6 | rs5030655 | 1707delT | Inactive | 0 | PM |
| CYP2D6*9 | rs5030656 | 2615_2617del AAG | Reduced | 0.5 | IM |
| CYP2D6*10 | rs1065852, rs1135840 | 100C > T, 4180G > C | Reduced | 0.5 | IM |
| CYP2D6*41 | rs28371725 | 2988G > A | Reduced | 0.5 | IM |
SNP single nucleotide polymorphism, RefSeq reference sequence, NA not applicable, EM extensive metabolizer, PM poor metabolizer, IM intermediate metabolizer
aWhere more than one SNP is listed for a given allele, a variant at only one loci needed to be present to classify an individual as having that allele
bActivity score (AS) calculated as the sum of the activity score value for each allele held by an individual for a range of values from 0 to 2. One exception to this is the instance of individuals carrying two IM (reduced activity) alleles, where we provided a distinction between individuals classified as EM/PM (AS = 1), IM/IM (AS = 0.75), and IM/PM (AS = 0.5)