rs104894553(A;G)
From SNPedia
| Carrier of a (mild) Canavan disease mutation |
| Is a | genotype |
| of | rs104894553 |
| Gene | ASPA, SPATA22 |
| Chromosome | 17 |
| Position | 3,476,371 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | mild Canavan disease |
| (A;G) | 3 | Carrier of a (mild) Canavan disease mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of a second ASPA gene mutation
