rs1057516498(-;CC)
From SNPedia
Carrier of a Canavan disease mutation |
Is a | genotype |
of | rs1057516498 |
Gene | ASPA, SPATA22 |
Chromosome | 17 |
Position | 3,494,365 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8 | Canavan disease (predicted) |
(-;CC) | 3 | Carrier of a Canavan disease mutation |
(CC;CC) | 0 | common in clinvar |
Unaffected in absence of a second ASPA gene mutation.