rs144081869(C;T)
From SNPedia
| Carrier of a McArdle disease mutation |
| Is a | genotype |
| of | rs144081869 |
| Gene | PYGM |
| Chromosome | 11 |
| Position | 64,750,497 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a McArdle disease mutation |
| (T;T) | 5 | McArdle disease (also known as glycogen storage disease type V) |
Unaffected in absence of a second mutation in the PYGM gene
