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rs1057516416(G;T)

From SNPedia
Carrier of a Canavan disease mutation
Is agenotype
ofrs1057516416
GeneASPA, SPATA22
Chromosome17
Position3,494,355
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a Canavan disease mutation
(T;T) 8 Canavan disease (predicted)

Unaffected in absence of a second ASPA gene mutation.