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rs1057516962(-;T)

From SNPedia
Carrier of a Canavan disease mutation
Is agenotype
ofrs1057516962
GeneASPA, SPATA22
Chromosome17
Position3,481,611
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;T) 3 Carrier of a Canavan disease mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second ASPA gene mutation.