Table 4 Important variant and allele frequencies of the human CYP2D6 gene.
Allele | Defining variants | Variant type | Functional consequence | European | AJ | Asian | AFR | AMR | ME | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EUR | SE | NWE | FIN | EAS | JP | KR | SAS | ||||||||
*1 | None | Normal | 24.1 | 27.3 | 27.7 | 31.8 | 7.9 | 17.5 | 42 | 27.9 | 25.3 | 20.8 | 48.9 | 6.7 | |
*1xN | Amplification of *1 | Increased | 0.9 | 1.6 | 1 | 2.5 | 3 | 0.3 | 0.5 | <0.1 | 0.6 | 1.5 | 1.1 | 3.1 | |
*2 | rs16947, rs1135840 | Missense (R296C, S486T) | Normal | 33.6 | 37.2 | 33.5 | 39.1 | 40.4 | 14.6 | 15.8 | 13.6 | 38 | 22.5 | 26 | 50.6 |
*2xN | Amplification of *2 | Increased | 1.2 | 1.2 | 0.9 | 2.2 | 2.6 | 0.4 | 0.4 | 0.8 | 1.1 | 1.3 | 1.9 | 3.9 | |
*3 | rs35742686 | Frameshift | Inactive | 1.7 | 1.1 | 1.7 | 3.6 | 0.4 | 0 | 0 | 0 | 0.1 | 0.3 | 0.5 | 0.3 |
*4 | rs3892097 | Splicing defect | Inactive | 19.6 | 17.1 | 20.3 | 10 | 18.2 | 0.3 | 0 | 0.2 | 10.4 | 8 | 11.1 | 9.8 |
*5 | CYP2D6 deleted | Inactive | 2.9 | 2.3 | 4.1 | 2.2 | 1.1 | 5.2 | 4.9 | 4.9 | 3.2 | 6.2 | 2.1 | 2.3 | |
*6 | rs5030655 | Frameshift | Inactive | 1.1 | 1.1 | 1.2 | 2.1 | 0.8 | 0 | 0 | 0 | 0.2 | 0.2 | 0.4 | 0.6 |
*7 | rs5030867 | Missense (H324P) | Inactive | <0.1 | <0.1 | <0.1 | 0 | <0.1 | 0 | 0 | 0 | 0.8 | <0.1 | <0.1 | 1.3 |
*9 | rs5030656 | Inframe deletion (K281del) | Decreased | 2.6 | 1.9 | 3 | 1.3 | 0.3 | 0 | 0 | 0 | 0.2 | 0.4 | 1.2 | 0 |
*10 | rs1065852, rs1135840 | Missense (P34S, S486T) | Decreased | 1.7 | 2.4 | 1.5 | 1.1 | 6.7 | 57.3 | 35 | 50.2 | 5.5 | 4.8 | 1.4 | 6.4 |
*14 | rs5030865 | Missense (G169R) | Decreased | <0.1 | 0 | 0 | 0 | 0 | 1.3 | 0.8 | 0.5 | <0.1 | 0 | <0.1 | 0 |
*17 | rs16947, rs28371706 | Missense (R296C, T107I) | Decreased | <0.1 | 0.4 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 20.5 | 0.7 | 0 |
*29 | rs16947, rs1135840, rs61736512, rs59421388 | Missense (R296C, S486T, V136I, V338M) | Decreased | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8.9 | 0.4 | 0 |
*41 | rs28371725 | Splicing defect | Decreased | 9.3 | 10.9 | 10 | 3.2 | 17.6 | 3.2 | 0.7 | 1.8 | 13.6 | 2.6 | 4 | 14.3 |
*33 | rs28371717 | Missense (A237S) | Normal | 1.2 | 0.5 | 1.1 | 1 | 1 | 0 | 0 | 0 | 0.7 | 0.2 | 0.2 | 0.6 |
*43 | rs28371696 | Missense (R26H) | <0.1 | <0.1 | <0.1 | <0.1 | 0 | <0.1 | 0 | <0.1 | 0.6 | 1.8 | 0.2 | 0 | |
