Table 1.
Information of AOC1 gene (NM_001091.4) variants and the allelic and genotype frequencies in the European population.
| dbSNV ID | Variant | Allelic Frequency ALFA * |
Allelic Frecuency gnomAD ¥ | Genotype Frequency | ||||
|---|---|---|---|---|---|---|---|---|
| rs10156191 | c.47C > T (p.Thr16Met) |
C | T | C | T | CC | CT | TT |
| 0.7393 | 0.2607 | 0.7392 | 0.2608 | 0.547 | 0.385 | 0.068 | ||
| rs1049742 | c.995C > T (p.Ser332Phe) |
C | T | C | T | CC | CT | TT |
| 0.9275 | 0.0725 | 0.9219 | 0.0781 | 0.860 | 0.134 | 0.005 | ||
| rs1049793 | c.1990C > G (p.His664Asp) | C | G | C | G | CC | CG | GG |
| 0.6972 | 0.3029 | 0.7047 | 0.2953 | 0.486 | 0.422 | 0.092 | ||
| rs2052129 | c.-691G > T (promoter region) |
G | T | G | T | GG | GT | TT |
| 0.7638 | 0.2362 | 0.7605 | 0.2395 | 0.583 | 0.361 | 0.056 | ||
* Allelic frequency alpha for the European Population according to Phan et al., 2020 [17]; ¥ Allelic frequency gnomAD v4.0.0 (GRCh38) for the European (non-Finnish) population.