rs57520892(A;G)
From SNPedia
| Carrier of a mandibuloacral dysplasia mutation |
| Is a | genotype |
| of | rs57520892 |
| Gene | LMNA |
| Chromosome | 1 |
| Position | 156,137,204 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a mandibuloacral dysplasia mutation |
| (C;C) | 5 | |
| (C;G) | 6 | Emery-Dreifuss muscular dystrophy (predicted) |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of a second LMNA gene mutation
