Table 1 Important variant and allele frequencies of the human CYP2A6 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 | 77 | 55 | 79.1 | 73.9 | 72.6 | 41.7 | 23.8 | 42.8 | 68.6 | 69.8 | 74.3 | 84.8 | |
*2 | rs1801272 | Missense (L160H) | Inactive | 2.6 | 2.8 | 2.8 | 2.5 | 2.2 | 0 | 0 | 0 | 1.2 | 0.4 | 1.6 | 1.3 |
*4 | CYP2A6 deleted | Inactive | 1 | 4 | 1 | 1 | 0 | 17 | 19 | 10.8 | 7 | 1.5 | 4 | 1 | |
*5 | rs5031017 | Missense (G479V) | Inactive | <0.1 | 0 | <0.1 | 0.1 | <0.1 | 0.7 | 0 | 1 | <0.1 | <0.1 | <0.1 | 0 |
*7 | rs5031016 | Missense (I471T) | Decreased | <0.1 | 0.1 | <0.1 | <0.1 | 0.5 | 8.9 | 13.7 | 12.5 | 0.1 | <0.1 | <0.1 | 0.8 |
*8 | rs28399468 | Missense (R485L) | Normal | <0.1 | 0 | 0 | 0 | 0 | 2.3 | 2.4 | 1.8 | 0 | 0 | 0 | 0 |
*9 | rs28399433 | TATA box | Decreased | 6.8 | 5.5 | 6.3 | 11.2 | 7.1 | 22.5 | 30 | 24.1 | 14.2 | 8.3 | 14.1 | 6.1 |
*14 | rs28399435 | Missense (S29N) | 4.1 | 3.1 | 4.5 | 1.3 | 2.1 | <0.1 | 0 | 0 | 3.6 | 0.8 | 1.5 | 1.6 | |
*17 | rs28399454 | Missense (V365M) | Decreased | <0.1 | <0.1 | <0.1 | 0 | <0.1 | 0 | 0 | 0 | <0.1 | 10.9 | 0.6 | 0.9 |
*18 | rs1809810 | Missense (Y392F) | Decreased | 1.4 | 1.3 | 1.6 | 1.4 | 0.7 | 0.3 | 0.8 | 0 | 1.2 | 0.5 | 1 | 1.5 |
*19 | rs5031016, rs1809810 | Missense (I471T, Y392F) | <0.1 | 0.1 | <0.1 | <0.1 | 0.2 | 0.8 | 1.3 | 1.2 | <0.1 | <0.1 | <0.1 | 0.4 | |
*21 | rs6413474 | Missense (K476R) | Decreased | 1.3 | 1.1 | 1.3 | 2.6 | 2.9 | <0.1 | 0 | 0 | 1.9 | 0.2 | 0.5 | 0.9 |
*23 | rs56256500 | Missense (R203C) | Decreased | <0.1 | <0.1 | <0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | 1.4 | <0.1 | 0 |
*25 | rs28399440 | Missense (F118L) | <0.1 | 0 | <0.1 | 0 | 0 | 0 | 0 | 0 | 0 | 1.4 | <0.1 | 0 | |
*28 | rs28399463, rs8192730 | Missense (N418D, E419D) | <0.1 | <0.1 | <0.1 | <0.1 | 0 | <0.1 | <0.1 | <0.1 | <0.1 | 1.5 | <0.1 | 0 | |
*35 | rs143731390 | Missense (N438Y) | Decreased | 5.7 | 7.1 | 3.3 | 7 | 11.7 | 5.7 | 9.1 | 5.7 | 2.1 | 3.3 | 2 | 0.6 |
