With Cerebellar Hypoplasia and Arthrogryposis
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Associated Variants (21)
| RSID | Gene | Evidence |
|---|---|---|
| RS747391554 | PI4KA | strong |
| RS2518027388 | PI4KA | strong |
| RS201395198 | PI4KA | strong |
| RS2147164417 | PI4KA | strong |
| RS2147287553 | PI4KA | strong |
| RS1490645147 | PI4KA | strong |
| RS1419816068 | PI4KA | strong |
| RS2147171210 | PI4KA | strong |
| RS139598272 | PI4KA | strong |
| RS1929601378 | PI4KA | strong |
| RS1351749039 | PI4KA | strong |
| RS62508698 | PAH | strong |
| RS144933467 | PI4KA | strong |
| RS767451281 | PI4KA | strong |
| RS775166339 | PI4KA | strong |
| RS1932452329 | PI4KA | strong |
| RS113584704 | PI4KA | strong |
| RS113882528 | PI4KA | strong |
| RS747119727 | PI4KA | strong |
| RS777006911 | PI4KA | strong |
| RS62516141 | PAH | strong |