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rs12948217(C;C)

From SNPedia
common in clinvar
Is agenotype
ofrs12948217
GeneASPA, SPATA22
Chromosome17
Position3,494,408
mentionedby
Magnitude0
ReputeGood
Geno Mag Summary
(A;A) 8 Canavan disease (predicted); note issue with microarray data though
(A;C) 3 Carrier of a Canavan disease mutation; note issue with microarray data though
(A;T) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar
(C;T) 0
(T;T) 0