rs104894549(A;C)
From SNPedia
Carrier of a Canavan disease mutation |
Is a | genotype |
of | rs104894549 |
Gene | ASPA, SPATA22 |
Chromosome | 17 |
Position | 3,494,369 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Canavan disease (predicted) |
(A;C) | 3 | Carrier of a Canavan disease mutation |
(C;C) | 0 | common in clinvar |
Unaffected in absence of a second ASPA gene mutation.