Table 1.
Selected gene alleles, their causative variations, and associated phenotypes
| Gene and Allele | Causative Variation(s) | Phenotype |
|---|---|---|
| CYP2C9 | ||
| *2 | rs1799853 (T) | Decreased function |
| *3 | rs1057910 (C) | Decreased function |
| CYP4F2 | ||
| *3 | rs2108622 (T) | Decreased function |
| CYP3A5 | ||
| *3 | rs776746 (C) | Decreased function |
| CYP2C19 | ||
| *2 | rs4244285 (A) | Decreased function |
| *3 | rs4986893 (A) | Decreased function |
| *17 | rs12248560 (T) | Increased function |
| TPMT | ||
| *2 | rs1800462 (G) | Decreased function |
| *3A | rs1800460 (T); rs1142345 (C) | Decreased function |
| *3B | rs1800460 (T) | Decreased function |
| *3C | rs1142345 (C) | Decreased function |
| *4 | rs1800584 (T) | Decreased function |
| VKORC1 | ||
| −1639G>A | rs9923231 (T) | Increased sensitivity to warfarin |
| SLCO1B1 | ||
| *5 | rs4149056 (C) | Decreased function |
| HLA-B | ||
| *58:01 | N/A | Increased SCAR risk |
TPMT, thiopurine methyltransferase; N/A, not applicable; SCAR, severe cutaneous adverse reaction.