rs386834236(G;T)
From SNPedia
| Unaffected carrier of a Pompe disease (adult onset GSD II) mutation |
| Is a | genotype |
| of | rs386834236 |
| Gene | GAA |
| Chromosome | 17 |
| Position | 80,104,542 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 5 | Likely to have Pompe disease |
| (G;T) | 3 | Unaffected carrier of a Pompe disease (adult onset GSD II) mutation |
| (T;T) | 0 | common in clinvar |
Unaffected in absence of a second GAA gene mutation; see text on main rs-page.
