rs28937590(A;G)
From SNPedia
| carrier for a GRACILE syndrome mutation |
| Is a | genotype |
| of | rs28937590 |
| Gene | BCS1L, ZNF142 |
| Chromosome | 2 |
| Position | 218,661,219 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | carrier for a GRACILE syndrome mutation |
| (G;G) | 8 | GRACILE syndrome |
Unaffected in absence of a second BCS1L gene mutation
