rs1057516498(-;CC)
From SNPedia
| Carrier of a Canavan disease mutation |
| Is a | genotype |
| of | rs1057516498 |
| Gene | ASPA, SPATA22 |
| Chromosome | 17 |
| Position | 3,494,365 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 8 | Canavan disease (predicted) |
| (-;CC) | 3 | Carrier of a Canavan disease mutation |
| (CC;CC) | 0 | common in clinvar |
Unaffected in absence of a second ASPA gene mutation.
