rs12948217(A;C)
From SNPedia
Carrier of a Canavan disease mutation; note issue with microarray data though |
Is a | genotype |
of | rs12948217 |
Gene | ASPA, SPATA22 |
Chromosome | 17 |
Position | 3,494,408 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Canavan disease (predicted); note issue with microarray data though |
(A;C) | 3 | Carrier of a Canavan disease mutation; note issue with microarray data though |
(A;T) | 3 | Carrier of a Canavan disease mutation |
(C;C) | 0 | common in clinvar |
(C;T) | 0 | |
(T;T) | 0 |
Unaffected in absence of a second ASPA gene mutation.