Table 1. Classification criteria used to identify off-target pharmacogenetic variants from the PharmGKB database.
| Step | Filter | Number variants |
|---|---|---|
| 1 | Exclude synonymous and non-coding variants | 561 |
| 2 | Include variants that have type:toxicity/ADR | 339 |
| 3 | For drug and gene pairs, exclude variants with additional effect types other than Toxicity/ADR | 273 |
| 4 | Gene containing variant is NOT an ADME process gene OR annotated in GO with ‘xenobiotic metabolic process’ OR ‘transporter’ | 196 |
| 5* | Variant not containing an entry in clinVAR | 142 |
Note:
For 30 variants used as a truth set, we performed an additional detailed literature search to definitively classify each variant as type A or type B.