Table 6.
Evaluation of low-frequency variants identified with NGS.
| Gene | SNV ID | Position | Change | Type | Effect | C-score | Number Patients | Warfarin stable dose (mg/day) | |
|---|---|---|---|---|---|---|---|---|---|
| CYP2C9 | rs28371685 | CYP2C9*11 | 96740981 | C>T | Missense | Arg335Trp | 27.9 | 2 | 2.89 |
| CYP2C9 | rs142240658 | CYP2C9*21 | 96698528 | C>T | Missense | Pro30Leu | 25.1 | 1 | 3.21 |
| CYP2C9 | rs2256871 | CYP2C9*9 | 96708974 | A>G | Missense | His251Arg | 23.8 | 4 | 3.84 |
| CYP2C9 | rs28371686 | CYP2C9*5 | 96741058 | C>G | Missense | Asp360Glu | 23.5 | 3 | 4.00 |
| CYP2C9 | rs9332339 | CYP2C9*12 | 96748777 | C>T | Missense | Pro489Ser | 23.5 | 1 | 1.71 |
| CYP2C9 | rs149158426 | Not found | 96709023 | G>A | Synonymous | +19 bps splicing site | 15.43 | 1 | 2.89 |
| VKORC1 | rs55894764 | rs55894764 | 31106015 | C>T | Synonymous | Arg12Arg | 15.25 | 3 | 7.02 |
| CYP2C9 | rs114071557 | CYP2C9*36 | 96698440 | A>G | Missense | Loss of ATG translation start site | 15.14 | 2 | 3.00 |
| VKORC1 | Not found | Not found | 31107155 | C>T | Regulatory | Regulatory | 13 | 1 | 4.29 |
| CYP2C9 | rs7900194 | CYP2C9*8 | 96702066 | G>A | Missense | Arg150His | 7.88 | 4 | 4.16 |
C-score is a value estimated by CADD to rank genetic variants according to predicted deleteriousness. Variants are organized in descending probability of deleteriousness (according to C-score).