rs121907943(C;T)
From SNPedia
| Carrier of a glycogen storage disease II mutation |
| Is a | genotype |
| of | rs121907943 |
| Gene | GAA |
| Chromosome | 17 |
| Position | 80,118,271 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a glycogen storage disease II mutation |
| (T;T) | 5 | Glycogen storage disease II (predicted) |
Unaffected in absence of a second GAA gene mutation
