Table 2.
Important variant and allele frequencies of the human CYP2B6 gene.
| Allele | Defining variants | Variant type | Functional consequence | European | AJ | Asian | AFR | AMR | ME | |||||||
| Overall | SE | NWE | FIN | EAS | JP | KR | SAS | |||||||||
| *1 | None | Normal | 55.7 | 54.4 | 55.8 | 62.1 | 50.8 | 74.4 | 74.4 | 80.7 | 47.8 | 43.6 | 57.3 | 47.1 | ||
| *2 | rs8192709 | Missense (R22C) | Normal | 5.6 | 7.3 | 4.8 | 4.9 | 8 | 4.6 | 4.6 | 2.9 | 3.1 | 3.7 | 3.1 | 10.1 | |
| *4 | rs2279343 | Missense (K262R) | Increased | 3.4 | 3.4 | 3.4 | 3.4 | 3.4 | 10.6 | 7.7 | 7.2 | 15.3 | 1 | 10.2 | 10.4 | |
| *5 | rs3211371 | Missense (R487C) | Normal | 11.8 | 10.3 | 11.9 | 12.1 | 10.4 | 0 | 1.6 | 0.2 | 7.5 | 2.6 | 4.4 | 6.8 | |
| *6 | rs2279343, rs3745274 | Missense (K262R, Q172H) | Decreased | 19.6 | 19.7 | 19.3 | 19.7 | 19.4 | 21.5 | 15.5 | 14.5 | 28.1 | 32 | 20.3 | 22.8 | |
| *7 | rs2279343, rs3745274, rs3211371 | Missense (K262R, Q172H, R487C) | Decreased | <0.1 | 0 | 0.4 | 0 | 0.3 | 0.2 | 0.2 | 0.3 | 0.1 | 0 | 0 | 0.3 | |
| *8 | rs12721655 | Missense (K139E) | Inactive | 0.4 | 0.2 | 0.5 | <0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | 0.1 | 0 | |
| *9 | rs3745274 | Missense (Q172H) | Decreased | 4.4 | 5.8 | 4.5 | 0 | 7.2 | 3.4 | 2.5 | 0.1 | 10.3 | 5.1 | 11.1 | 10.2 | |
| *12 | rs36060847 | Missense (G99E) | Inactive | <0.1 | <0.1 | <0.1 | 0 | 0.7 | 0 | 0 | 0 | 0 | <0.1 | <0.1 | 0 | |
| *13 | rs2279343, rs3745274, rs12721655 | Missense (K262R, Q172H, K139E) | Inactive | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | <0.1 | 0 | 0 | 0 | |
| *18 | rs28399499 | Missense (I328T) | Inactive | <0.1 | <0.1 | <0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | 7 | 0.4 | 0.6 | |
| *19 | rs34826503 | Missense (R336C) | Decreased | <0.1 | <0.1 | 0 | 0 | 0 | <0.1 | 0 | <0.1 | 0 | 0.2 | <0.1 | 0 | |
| *20 | rs36056539 | Missense (T168I) | Decreased | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0.2 | <0.1 | 0 | |
| *22 | rs34223104 | Regulatory | Increased | 1.3 | 1.9 | 1 | 0.7 | 1.7 | 0.3 | 0 | 0 | 1.8 | 3 | 1.4 | 3.2 | |
| *26 | rs2279343, rs3745274, rs3826711 | Missense (K262R, Q172H, P167A) | Decreased | 0 | 0 | 0 | 0 | 0 | 0.4 | 0 | 0.3 | 0 | 0 | 0 | 0 | |
| *28 | rs34097093 | Stop-gain (R378X) | Inactive | <0.1 | <0.1 | <0.1 | <0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | <0.1 | 0 | |
AFR African, EAS East Asian, SAS South Asian, AMR admixed Americans, FIN Finnish, AJ Ashkenazi Jewish, ME Middle Eastern, SE South European, NWE Northwest European, JP Japanese, KR Korean.