rs104894548(C;T)
From SNPedia
Carrier of a Canavan disease mutation |
Is a | genotype |
of | rs104894548 |
Gene | ASPA, SPATA22 |
Chromosome | 17 |
Position | 3,483,520 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 8 | Canavan disease (predicted) |
(C;T) | 3 | Carrier of a Canavan disease mutation |
(T;T) | 0 | common in clinvar |
Unaffected in absence of a second ASPA gene mutation.