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rs12948217(A;A)

From SNPedia
Canavan disease (predicted); note issue with microarray data though
Is agenotype
ofrs12948217
GeneASPA, SPATA22
Chromosome17
Position3,494,408
mentionedby
Magnitude8
ReputeBad
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

See discussion at Canavan disease and links via main SNP page.

Note: several years ago, certain genotyping companies may have routinely misreported results for this SNP, and so an abundance of caution is recommended for anyone receiving this genotype in their raw data.