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rs1057516315(-;C)

From SNPedia
Carrier of a Canavan disease mutation
Is agenotype
ofrs1057516315
GeneASPA, SPATA22
Chromosome17
Position3,494,412
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;C) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar

Unaffected in absence of a second ASPA gene mutation.