Schwartz-jampel Syndrome Type 1
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Associated Genes (1)
Associated Variants (33)
| RSID | Gene | Evidence |
|---|---|---|
| RS1318029350 | HSPG2 | strong |
| RS573932867 | HSPG2 | strong |
| RS570850437 | HSPG2 | strong |
| RS147810145 | HSPG2 | strong |
| RS369313904 | HSPG2 | strong |
| RS1294413650 | HSPG2 | strong |
| RS2098038156 | HSPG2 | strong |
| RS111306515 | HSPG2 | strong |
| RS144447618 | HSPG2 | strong |
| RS1336552092 | HSPG2 | strong |
| RS2229483 | HSPG2 | strong |
| RS758801322 | HSPG2 | strong |
| RS139944523 | HSPG2 | strong |
| RS527416373 | HSPG2 | strong |
| RS2550581823 | HSPG2 | strong |
| RS1239294172 | HSPG2 | strong |
| RS2550800597 | HSPG2 | strong |
| RS1572204991 | HSPG2 | strong |
| RS763945561 | HSPG2 | strong |
| RS201491948 | HSPG2 | strong |
| RS149319607 | HSPG2 | strong |
| RS139873789 | HSPG2 | strong |
| RS146462440 | HSPG2 | strong |
| RS142939330 | HSPG2 | strong |
| RS376645617 | HSPG2 | strong |
| RS149094407 | HSPG2 | strong |
| RS565594406 | HSPG2 | strong |
| RS149644947 | HSPG2 | strong |
| RS778653296 | HSPG2 | strong |
| RS2550665451 | HSPG2 | strong |
| RS748523693 | HSPG2 | strong |
| RS1572220282 | HSPG2 | strong |
| RS137853248 | HSPG2 | strong |