rs12948217(C;C)
From SNPedia
| common in clinvar |
| Is a | genotype |
| of | rs12948217 |
| Gene | ASPA, SPATA22 |
| Chromosome | 17 |
| Position | 3,494,408 |
| mentioned | by |
| Magnitude | 0 |
| Repute | Good |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8 | Canavan disease (predicted); note issue with microarray data though |
| (A;C) | 3 | Carrier of a Canavan disease mutation; note issue with microarray data though |
| (A;T) | 3 | Carrier of a Canavan disease mutation |
| (C;C) | 0 | common in clinvar |
| (C;T) | 0 | |
| (T;T) | 0 |
