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rs1057517085(-;GT)

From SNPedia
Carrier of a Canavan disease mutation
Is agenotype
ofrs1057517085
GeneASPA, SPATA22
Chromosome17
Position3,498,973
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 8 Canavan disease (predicted)
(-;GT) 3 Carrier of a Canavan disease mutation
(GT;GT) 0 common/normal
(TG;TG) 0 common in clinvar

Unaffected in absence of a second ASPA gene mutation.