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. 2014 Apr 23;9(4):e95881. doi: 10.1371/journal.pone.0095881

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