TABLE 3.
Total variants indentified per gen.
| Category | Gen | PharmGKB and clinvar clinical pharmacogenetic effect variants | Rare missense and LOF variants | Total variants |
|---|---|---|---|---|
| Transporter | ABCB1 | 8 | 9 | 17 |
| Transporter | ABCC2 | 5 | 9 | 14 |
| Transporter | ABCG2 | 1 | 3 | 4 |
| Phase I | CYP1A1 | 1 | 6 | 7 |
| Phase I | CYP1A2 | 1 | 5 | 6 |
| Phase I | CYP2A6 | 1 | 0 | 1 |
| Phase I | CYP2B6 | 7 | 5 | 12 |
| Phase I | CYP2C19 | 2 | 7 | 9 |
| Phase I | CYP2C8 | 3 | 2 | 5 |
| Phase I | CYP2C9 | 4 | 3 | 7 |
| Phase I | CYP2D6 | 6 | 10 | 16 |
| Phase I | CYP2E1 | 1 | 3 | 4 |
| Phase I | CYP3A4 | 2 | 4 | 6 |
| Phase I | CYP3A5 | 3 | 6 | 9 |
| Phase I | DPYD | 8 | 11 | 19 |
| Others | DRD2 | 2 | 1 | 3 |
| Phase II | GSTP1 | 2 | 3 | 5 |
| Phase II | GSTT1 | 0 | 1 | 1 |
| Phase II | NAT1 | 0 | 4 | 4 |
| Phase II | NAT2 | 6 | 1 | 7 |
| Transporter | SLC15A2 | 1 | 2 | 3 |
| Transporter | SLC22A1 | 6 | 8 | 14 |
| Transporter | SLC22A2 | 1 | 4 | 5 |
| Transporter | SLC22A6 | 0 | 7 | 7 |
| Transporter | SLCO1B1 | 4 | 5 | 9 |
| Transporter | SLCO1B3 | 2 | 6 | 8 |
| Transporter | SLCO1B7 | 0 | 4 | 4 |
| Phase II | SULT1A1 | 1 | 5 | 6 |
| Phase II | SYCE1 | 0 | 1 | 1 |
| Phase II | TPMT | 2 | 1 | 3 |
| Phase II | UGT1A1 | 0 | 3 | 3 |
| Phase II | UGT2B15 | 1 | 4 | 5 |
| Phase II | UGT2B17 | 0 | 4 | 4 |
| Phase II | UGT2B7 | 5 | 4 | 9 |
| Pharmacodynamic | VKORC1 | 3 | 1 | 4 |
| Total | 89 | 152 | 241 |
LOF, loss of function.