rs104894552(A;T)
From SNPedia
| Carrier of a Canavan disease mutation |
| Is a | genotype |
| of | rs104894552 |
| Gene | ASPA, SPATA22 |
| Chromosome | 17 |
| Position | 3,498,892 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;T) | 3 | Carrier of a Canavan disease mutation |
| (T;T) | 8 | Canavan disease (predicted) |
Unaffected in absence of a second ASPA gene mutation.
