rs28940279(A;C)
From SNPedia
| Carrier of a Canavan disease mutation |
| Is a | genotype |
| of | rs28940279 |
| Gene | ASPA, SPATA22 |
| Chromosome | 17 |
| Position | 3,499,000 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a Canavan disease mutation |
| (C;C) | 8 | Canavan disease (predicted) |
Unaffected in absence of a second ASPA gene mutation.
