- The selected cytochrome P450 2D6 single nucleotide polymorphisms for this study.
| SNP ID/name | Position reference | SNP region | Genetic variation | Functional consequence | Phenotype prediction* | Global MAF† |
|---|---|---|---|---|---|---|
| rs1080985 (CYP2D6*2) | NC_000022.11:g.42132375G>C | Promotor | 2KB upstream variant | No function | - | Samples = 14,996 G = 0.87 (Ref) C = 0.13 (Alt) |
| rs28624811 (CYP2D6*36) | NC_000022.11:g.42131531G>A | Promotor | 2KB upstream variant | No function | - | Samples = 55,678 G = 0.66 (Ref) A = 0.34 (Alt) |
| rs1065852 (CYP2D6*4) | NC_000022.11:g.42130692G>A | Exon 1 | Missense variant; splice defect | Decreased function | PM | Samples = 48,628 G = 0.79 (Ref) A = 0.21 (Alt) |
| rs28371725 (CYP2D6*41) | NC_000022.11:g.42127803C>T | Intron 6 | Intron variant; splice defect | Decreased function | IM-PM | Samples = 43,504 C = 0.91 (Ref) T = 0.09 (Alt) |
| rs1135840 (CYP2D6*10) | NC_000022.11:g.42126611C>G | Exon 9 | Missense variant | Decreased function | IM-PM | Samples = 24,724 C = 0.43 (Ref) G = 0.57 (Alt) |
↵* Phenotype prediction is based on Clinical Pharmacogenetics Implementation Consortium recommendations. †Global minor allele frequency is based on Allele Frequency Aggregator project database. Alt: alternative allele, CYP2D6: cytochrome P450 2D6, ID: identification, IM: intermediate metabolizers, SNP: single nucleotide polymorphism, MAF: minor allele frequency, PM: poor metabolizers, Ref: reference allele