rs28940868(A;A)
From SNPedia
| likely to have Pompe disease |
| Is a | genotype |
| of | rs28940868 |
| Gene | GAA |
| Chromosome | 17 |
| Position | 80,112,922 |
| mentioned | by |
| Magnitude | 5 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | likely to have Pompe disease |
| (A;C) | 3 | Carrier for Pompe disease |
| (C;C) | 0 | normal |
rs28940868(A;A) homozygotes are the most common genotypes found in infants from Taiwan with Pompe disease.[PMID 9554747]
