Table 1: Overview of PINK1 p.G411S frequencies in several cohorts.
Between brackets are the number of PINK1 p.G411S variants. Data derived from Supplementary Table 1, Puschmann et al paper, and gnomAD (https://gnomad.broadinstitute.org/ accessed December 2019).
| Data-type | Cases | Controls | Cases_MAF | Controls_MAF |
|---|---|---|---|---|
| NeuroX | 5561 (10) | 5636 (9) | 0.0009 | 0.0008 |
| Sequencing studies (IPDGC + McGill) | 6352 (14) | 6289 (24) | 0.0011 | 0.0019 |
| UKbiobank case-control (genotype + exome) | 1542 (0) | 350361 (357) | 0 | 0.00051 |
| gnomAD (European non-Finnish) | NA | 64503 (259) | NA | 0.0020 |
| gnomAD (Finnish) | NA | 12444 (247) | NA | 0.0099 |
| Puschmann et al | 2541 (19) | 2140 (5) | 0.0037 | 0.0012 |
| Puschmann other studies^ | 2730 (3) | 1703 (1) | 0.00055 | 0.00029 |