Dopa-responsive Dystonia Due to Sepiapterin Reductase Deficiency
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Associated Genes (1)
Associated Variants (30)
| RSID | Gene | Evidence |
|---|---|---|
| RS1453510719 | SPR | strong |
| RS761407827 | SPR | strong |
| RS1670577442 | SPR | strong |
| RS2528319905 | SPR | strong |
| RS1030979700 | SPR | strong |
| RS758245029 | SPR | strong |
| RS2105243192 | SPR | strong |
| RS564501639 | SPR | strong |
| RS2105241166 | SPR | strong |
| RS1670576656 | SPR | strong |
| RS1670562900 | SPR | strong |
| RS1670578079 | SPR | strong |
| RS192766290 | SPR | strong |
| RS139708286 | SPR | strong |
| RS1450742178 | SPR | strong |
| RS121917746 | SPR | strong |
| RS1573881742 | SPR | strong |
| RS371904378 | SPR | strong |
| RS1366748724 | SPR | strong |
| RS1553498582 | SPR | strong |
| RS886056287 | SPR | strong |
| RS146349901 | SPR | strong |
| RS146099322 | SPR | strong |
| RS779204655 | SPR | strong |
| RS398122922 | SPR | strong |
| RS387907200 | SPR | strong |
| RS121917747 | SPR | strong |
| RS104893666 | SPR | strong |
| RS104893665 | SPR | strong |
| RS587776777 | SPR | strong |