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