Spondyloepiphyseal Dysplasia
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Associated Variants (35)
| RSID | Gene | Evidence |
|---|---|---|
| RS375322679 | ACAN | strong |
| RS771336246 | NMNAT1 | strong |
| RS201994921 | NMNAT1 | strong |
| RS1273822522 | MBTPS1 | strong |
| RS2086110956 | MBTPS1 | strong |
| RS1641939445 | NMNAT1 | strong |
| RS986437232 | NMNAT1 | strong |
| RS1896876172 | ACAN | strong |
| RS2141581633 | ACAN | strong |
| RS1592197682 | COL2A1 | strong |
| RS1939173389 | COL2A1 | strong |
| RS1356219990 | ACAN | strong |
| RS2151136903 | MBTPS1 | strong |
| RS2151160106 | MBTPS1 | strong |
| RS967208601 | MBTPS1 | strong |
| RS2540107727 | COL2A1 | strong |
| RS1223135985 | MBTPS1 | strong |
| RS986742379 | ACAN | strong |
| RS1567443039 | MIR140 | strong |
| RS387906534 | ACAN | strong |
| RS150726175 | NMNAT1 | strong |
| RS869312907 | COL2A1 | strong |
| RS886041895 | COL2A1 | strong |
| RS765380273 | ALDH18A1 | strong |
| RS760093841 | COL2A1 | strong |
| RS1555094473 | MGP | strong |
| RS147220828 | NMNAT1 | strong |
| RS72555367 | GLB1 | strong |
| RS771258750 | MBTPS1 | strong |
| RS1226321681 | MBTPS1 | strong |
| RS1592198747 | COL2A1 | strong |
| RS1239366051 | B3GALT6 | strong |
| RS773714478 | ALDH18A1 | strong |
| RS202057799 | NMNAT1 | strong |
| RS2085516391 | MBTPS1 | strong |