rs104894553(A;G)
From SNPedia
Carrier of a (mild) Canavan disease mutation |
Is a | genotype |
of | rs104894553 |
Gene | ASPA, SPATA22 |
Chromosome | 17 |
Position | 3,476,371 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 4 | mild Canavan disease |
(A;G) | 3 | Carrier of a (mild) Canavan disease mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second ASPA gene mutation