rs63751297(A;G)
From SNPedia
Carrier of a Canavan disease mutation |
Is a | genotype |
of | rs63751297 |
Gene | ASPA, SPATA22 |
Chromosome | 17 |
Position | 3,483,497 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Canavan disease mutation |
(G;G) | 8 | Canavan disease (predicted) |
Unaffected in absence of a second ASPA gene mutation.