Table 4.
Genotype Frequencies for Validated Genetic Variants
| Gene and rs number | HGVS nomenclature | Genotype | n | Genotype frequencies |
|---|---|---|---|---|
| ABCB1 rs1045642 | c.3435T>C or p.Ile1145= | T/T | 34 | 0.18 |
| T/C | 84 | 0.44 | ||
| C/C | 71 | 0.38 | ||
| ABCB1 rs1128503 | c.1236T>C or p.Gly412= | T/T | 28 | 0.15 |
| T/C | 88 | 0.47 | ||
| C/C | 73 | 0.39 | ||
| ABCB1 rs2032582 | c.2677T>G/A or p.Ser893Ala/Thr | T/T | 33 | 0.17 |
| T/G | 70 | 0.37 | ||
| G/G | 86 | 0.46 | ||
| CBR3 rs1056892 | c.730G>A or p.Val244Met | G/G | 65 | 0.34 |
| G/A | 101 | 0.53 | ||
| A/A | 23 | 0.12 | ||
| COMT rs4646316 | c.615+310C>T | C/C | 117 | 0.62 |
| C/T | 57 | 0.30 | ||
| T/T | 15 | 0.08 | ||
| COMT rs9332377 | c.616-367C>A/T | C/C | 125 | 0.66 |
| C/T | 59 | 0.31 | ||
| T/T | 5 | 0.03 | ||
| CYP3A7 rs45446698 (*1C) | c.-232A>C | A/A | 184 | 0.97 |
| A/C | 4 | 0.02 | ||
| C/C | 1 | 0.01 | ||
| C8orf34 rs1517114 | c.736+8162C>G/T/A | C/C | 22 | 0.12 |
| C/G | 81 | 0.43 | ||
| G/G | 86 | 0.46 | ||
| FCGR2A rs1801274 | c.500A>G or p.His167Arg | A/A | 59 | 0.31 |
| A/G | 94 | 0.50 | ||
| G/G | 36 | 0.19 | ||
| FCGR3A rs396991 | c.841T>C/G or p.Phe281Leu/Val | T/T | 78 | 0.41 |
| T/G | 94 | 0.50 | ||
| G/G | 17 | 0.09 | ||
| HAS3 rs2232228 | c.279A>G or p.Ala93 | A/A | 81 | 0.43 |
| A/G | 87 | 0.46 | ||
| G/G | 21 | 0.11 | ||
| NT5C2 rs11598702 | c.175+1178A>G/C | A/A | 102 | 0.54 |
| A/G | 75 | 0.40 | ||
| G/G | 12 | 0.06 | ||
| NUDT15 rs116855232 (*3) | c.415C>T or p.Arg139Cys | C/C | 183 | 0.97 |
| C/T | 6 | 0.03 | ||
| T/T | 0 | 0.00 | ||
| NUDT15 rs186364861 (*5) | c.52G>A or p.Val18Ile | G/G | 188 | 0.99 |
| G/A | 1 | 0.01 | ||
| A/A | 0 | 0.00 | ||
| SBF2 rs7102464 | c.2035G>A or p.Glu679Lys | G/G | 168 | 0.89 |
| G/A | 18 | 0.10 | ||
| A/A | 3 | 0.01 | ||
| SBF2 rs146987383 | c.2050C>G or p.Leu684Val | C/C | 0 | 0.00 |
| C/G | 0 | 0.00 | ||
| G/G | 189 | 1.00 | ||
| SBF2 rs141368249 | c.2081C>T or p.Ala694Val | C/C | 4 | 0.02 |
| C/T | 1 | 0.01 | ||
| T/T | 184 | 0.97 | ||
| SBF2 rs117957652 | c.3292C>G/T or p.Leu1098Val/= | C/C | 0 | 0.00 |
| C/G | 3 | 0.02 | ||
| G/G | 186 | 0.98 | ||
| SBF2 rs149501654 | c.4111G>C or p.Val1371Leu | G/G | 0 | 0.00 |
| G/C | 0 | 0.00 | ||
| C/C | 189 | 1.00 | ||
| SEMA3C rs7779029 | c.103+13883A>G | A/A | 134 | 0.71 |
| A/G | 44 | 0.23 | ||
| G/G | 11 | 0.06 | ||
| SEMA3C rs11979430 | c.103+36739G>A | G/G | 143 | 0.76 |
| G/A | 39 | 0.21 | ||
| A/A | 7 | 0.03 | ||
| SLC16A5 rs4788863 | c.121T>C or p.Leu81= | T/T | 24 | 0.13 |
| T/C | 71 | 0.38 | ||
| C/C | 94 | 0.49 | ||
| SLC28A3 rs885004 | c.862-360C>T | C/C | 143 | 0.76 |
| C/T | 44 | 0.23 | ||
| T/T | 2 | 0.01 | ||
| SLC28A3 rs7853758 | c.1381C>T or p.Leu461= | C/C | 123 | 0.65 |
| C/T | 56 | 0.30 | ||
| T/T | 10 | 0.05 | ||
| SOD2 rs4880 | c.47T>C or p.Val16Ala | T/T | 86 | 0.46 |
| T/C | 62 | 0.33 | ||
| C/C | 41 | 0.21 | ||
| TLR4 rs4986790 | c.776A>G or p.Asp299Gly | A/A | 176 | 0.93 |
| A/G | 13 | 0.07 | ||
| G/G | 0 | 0.00 | ||
| TPMT rs12201199 | c.419+94T>A | T/T | 18 | 0.10 |
| T/A | 26 | 0.14 | ||
| A/A | 143 | 0.76 |
HGVS, Human Genome Variation Society.