Table 4.
Overview of the minor allele frequencies found in the IP3, GoNL and gnomAD databases
| gene | Reference Sequence + Variant | rsID | IP3 (all, n = 200) | GoNL | IP3 (caucasian, n = 185) | gnomAD (Eur. Non-Finnish) |
|---|---|---|---|---|---|---|
| CYP2C09 | NG_008385.1:g.3608 C > T | rs1799853 | 0.120 | 0.121 | 0.124 | 0.082 |
| CYP2C09 | NG_008385.1:g.42614 A > C | rs1057910 | 0.078 | 0.069 | 0.081 | 0.048 |
| CYP2C19 | NG_008384.3:g.19154 G > A | rs4244285 | 0.135 | 0.140 | 0.124 | 0.167 |
| CYP2C19 | NG_008384.3:g.17948 G > A | rs4986893 | 0.003 | 0.000 | 0.003 | |
| CYP2C19 | NG_008384.3:g.-806C > T | rs12248560 | 0.208 | 0.237 | 0.211 | 0.204 |
| CYP2D6 | M33388:g.-1584C > G | rs1080985 | 0.205* | 0.211 | 0.213** | 0.249 |
| CYP2D6 | M33388:g.100 C > T | rs1065852 | 0.223* | 0.224 | 0.224** | 0.192 |
| CYP2D6 | M33388:g.1707delT | rs5030655 | 0.013* | 0.008 | 0.014** | 0.009 |
| CYP2D6 | M33388:g.1846G > A | rs3892097 | 0.195* | 0.199 | 0.208** | 0.136 |
| CYP2D6 | M33388:g.2549delA | rs35742686 | 0.015* | 0.030 | 0.016** | 0.014 |
| CYP2D6 | M33388:g.2615delAAG | rs5030656 | 0.023* | 0.025** | 0.015 | |
| CYP2D6 | M33388:g.2988 G > A | rs28371725 | 0.082* | 0.093 | 0.085** | 0.060 |
| CYP2D6 | M33388:g.3183 G > A | rs59421388 | 0.000* | 0.001 | 0.000** | 0.026 |
| CYP3A5 | NG_007938.1:g.12083 G > A | rs776746 | 0.923 | 0.938 | 0.930 | 0.928 |
| CYP3A5 | NG_007938.1:g.19787 G > A | rs10264272 | 0.000 | 0.000 | 0.036 | |
| DPYD | NM_000110.3:c.1905 + 1 G > A | rs3918290 | 0.008 | 0.007 | 0.008 | 0.006 |
| DPYD | NM_000110.3:c.1679T > G | rs55886062 | 0.000 | 0.002 | 0.000 | 0.000 |
| DPYD | NM_000110.3:c.1236 G > A | rs56038477 | 0.018 | 0.020 | 0.019 | 0.014 |
| DPYD | NM_000110.3:c.2846 A > T | rs67376798 | 0.010 | 0.006 | 0.011 | 0.005 |
| SLCO1B1 | NM_006446.4:c.521 T > C | rs4149056 | 0.138 | 0.163 | 0.146 | 0.135 |
| TPMT | NM_000367.4:c.238 G > C | rs1800462 | 0.003 | 0.001 | 0.003 | 0.001 |
| TPMT | NM_000367.4:c.460 G > A | rs1800460 | 0.050 | 0.038 | 0.054 | 0.025 |
| TPMT | NM_000367.4:c.719 A > G | rs1142345 | 0.078 | 0.040 | 0.081 | 0.041 |
| VKORC1 | NM_206824.2:c.173 + 1000 C > T | rs9934438 | 0.418 | 0.288 | 0.408 | 0.327 |
*(n = 190, patients with a combination of a CYP2D6 copy number of 3 and the genotypes *1/*2, *1/*10, *1/*41, *2/*41 were excluded from the minor allele frequency calculation)
**(n = 183, patients with a combination of a CYP2D6 copy number of 3 and the genotypes *1/*2, *1/*41, were excluded from the minor allele frequency calculation)