Table 1.
Genetic variants in the CYP2C19 and CYP2D6 genes identified in the Estonian Biobank. Positions are according to GRCh37
| rs-number | Position | Ref. | Alt. | MAF % (EstBB) | Amino acid exchange |
|---|---|---|---|---|---|
| CYP2C19 | |||||
| rs1466428833 | Chr10:96,535,156 | T | G | 0.02 | F114C |
| rs1361528097 | Chr10:96,540,264 | T | G | 0.02 | C164G |
| rs140278421 | Chr10:96,540,331 | G | A | 0.04 | R186H |
| rs148247410 | Chr10:96,541,688 | C | G | 0.02 | H251Q |
| rs1431015009 | Chr10:96,580,257 | A | T | 0.02 | K275M |
| rs1393133490 | Chr10:96,580,323 | C | T | 0.02 | A297V |
| Not available | Chr10:96,602,648 | T | C | 0.02 | M339T |
| CYP2D6 | |||||
| rs1230912765 | Chr22:42,525,143 | G | A | 0.02 | R133C |
| rs1058171 | Chr22:42,523,928 | C | T | 0.02 | D301N |
| Not available | Chr22:42,523,916 | C | T | 0.02 | A305T |
| Not available | Chr22:42,523,889 | G | T | 0.02 | L314M |
| rs28371733 | Chr22:42,522,916 | CG | C | 0.02 | E418NfsTer11 |
| rs757396767 | Chr22:42,522,982 | TGA | T | 0.10 | L395HfsTer11 |
| rs730882170 | Chr22:42,523,847 |
GCACATCCGG ATGTAGGATC |
G | 0.02 | M321IfsTer12 |
| rs750439337 | Chr22:42,524,820 | T | TC | 0.92 | E211GfsTer43 |