Table 3b.
Pharmogenomic rare and novel non-synonymous damaging variants (predicted damaging by PhD-SNP algorithm46)
| Drug | Effect type | Coding Change | Gene | Gene Name | SNP location | Patient Genotype |
|---|---|---|---|---|---|---|
| adefovir, dipivoxil, tenofovir | Pharmacokinetic | H191D | AK2 | adenylate kinase 2 | 1:33251518 | C/G |
| infliximab | Pharmacodynamic | V793M | NOD2 | nucleotide-binding oligomerization domain containing 2 | 16:49303700 | A/G |
| infliximab | Pharmacodynamic | S431L | NOD2 | nucleotide-binding oligomerization domain containing 2 | 16:49302615 | C/T |
| trastuzumab, erlotinib, gefitinib, lapatinib, PHA-665752, chloroquine, cisplatin, gemcitabine, cetuximab | Pharmacodynamic | H578Y | ERBB3 | v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) | 12:54774480 | C/T |
| mercaptopurine, methotrexate | Pharmacodynamic | I485F | MYLK | myosin light chain kinase | 3:124923809 | A/A |
| atorvastatin, fluvastatin, hmg coa reductase inhibitors, lovastatin, pravastatin, rosuvastatin, simvastatin, | Pharmacokinetic | Y21C | SLC15A1 | solute carrier family 15 (oligopeptide transporter), member 1 | 13:98176691 | C/T |
| cladribine, fludarabine, uridine, mercaptopurine, thioguanine, antineoplastic agents, gemcitabine, azathioprine, folic acid | Pharmacokinetic | S443F | SLC28A3 | solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 | 9:86090799 | A/G |
| antimetabolites, mercaptopurine, methotrexate, adenosine, antineoplastic agents, azathioprine, folic acid, thioguanine | Pharmacodynamic | P246L | AHCY | adenosylhomocysteinase | 20:32342227 | A/G |
| clozapine | Pharmacodynamic | T262K | HLA-DRB5 | major histocompatibility complex, class II, DR beta 5 | 6:32593811 | T/T |
| mercaptopurine, methotrexate | Pharmacodynamic | I14T | MICA | MHC class I polypeptide-related sequence A | 6:31484467 | C/T |
| cimetidine, estrone, antiinflammatory and antirheumatic products, non-steroids, ibuprofen, indomethacin, ketoprofen, methotrexate, phenylbutazone, piroxicam, probenecid, atorvastatin, fluvastatin, hmg coa reductase inhibitors, lovastatin, pravastatin, rosuvastatin, simvastatin, adefovir dipivoxil, tenofovir, antineoplastic agents, cyanocobalamin, folic acid, leucovorin, pyridoxine, | Pharmacokinetic | R534Q | SLC22A8 | solute carrier family 22 (organic anion transporter), member 8 | 11:62517376 | C/T |
| warfarin | Pharmacodynamic | G64R | VKORC1 | vitamin K epoxide reductase complex, subunit 1 | 16:31012227 | C/T |