rs1057517450(-;AGAA)
From SNPedia
| Carrier of a Canavan disease mutation |
| Is a | genotype |
| of | rs1057517450 |
| Gene | ASPA, SPATA22 |
| Chromosome | 17 |
| Position | 3,499,022 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Canavan disease (predicted) |
| (-;AGAA) | 3 | Carrier of a Canavan disease mutation |
| (AAAG;AAAG) | 0 | common in clinvar |
| (AGAA;AGAA) | 0 | common/normal |
Unaffected in absence of a second ASPA gene mutation.
