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rs1057516583(-;A)

From SNPedia
Carrier of a Canavan disease mutation
Is agenotype
ofrs1057516583
GeneASPA, SPATA22
Chromosome17
Position3,481,610
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 3 Carrier of a Canavan disease mutation
(A;A) 8 Canavan disease (predicted)

Unaffected in absence of a second ASPA gene mutation.