Table 1. Degrees of ITPA deficiency according to rs1127354/rs7270101 genotypes combinations (0–3: no ITPA deficiency, mild, moderate or severe deficiency).
rs1127354 | rs7270101 | Predicted ITPA activity | Predicted ITPA deficiency |
Wild-type (C/C) | Wild-type (A/A) | 100% | 0 |
Wild-type (C/C) | Heterozygosity (A/C) | 60% | 1 |
Heterozygosity (C/A) | Wild-type (A/A) | 30% | 2 |
Wild-type (C/C) | Homozygosity (C/C) | 30% | 2 |
Heterozygosity (C/A) | Heterozygosity (A/C) | 10% | 3 |
Homozygosity (A/A) | Wild-type (A/A) | <5% | 3 |