Table 3.
Allele Frequency of APOE ε4 SNV (rs429358) and ε2 SNV (rs7412)
| Studies | rs429358 | rs7412 | ||
|---|---|---|---|---|
| AF (Case) | AF (Control) | AF (Case) | AF (Control) | |
| PSP WGS (This study) | 0.1279 | 0.1742 | 0.0844 | 0.0414 |
| PSP GWAS [52] | 0.1159 | 0.1366 | 0.0826 | 0.0794 |
| 1000 Genomes Project [18] | 0.1512 | 0.0771 | ||
| ExAC European (non-Finnish) [53] | 0.2078 | 0.1060 | ||
| gnomAD V4 European (non-Finnish) [54] | 0.1506 | 0.0783 | ||
| TOPMed Freeze 8 NFE (Non-Finnish European) | 0.1501 | 0.0752 | ||
| ADSP R3 Non-Hispanic White [55] | 0.3139 (AD as cases) | 0.1803 | 0.0244 (AD as cases) | 0.0406 |