Table 1.
Summary of all non-synonymous variants detected in the current study
| dbSNP | Position | Substitution | PD N=1082 |
Controls N=1110 |
ExAC MAF in Europeans |
|---|---|---|---|---|---|
| rs41298432 | 14:55369314 | p.P23L | 3 | 8 | 1.502E-02 |
| rs1030068813 | 14:55369276 | p.A36S | 0 | 1 | - |
| - | 14:55369231 | p.D51N | 0 | 1 | - |
| - | 14:55369219 | p.G55S | 0 | 1 | - |
| rs56127440 | 14:55369176 | p.P69L | 2 | 0 | 5.934E-04 |
| - | 14:55312562 | p.R184C* | 1 | 0 | - |
| rs200891969 | 14:55312502 | p.V204I | 0 | 3 | 1.798E-04 |
| - | 14:55310569 | p.N215K | 0 | 1 | - |
| - | 14:55310570 | p.N215I | 0 | 1 | - |
| - | 14:55310841 | p.R216Q | 1 | 0 | - |
| rs104894434 | 14:55310826 | p.M221T* | 1 | 0 | 4.495E-05 |
| rs41298442 | 14:55310817 | p.K224R* | 3 | 0 | 4.195E-04 |
| Total | 11 (1.02%) | 16 (1.44%) |
*
Variants reported to be pathogenic in DRD.