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rs1057516995(A;G)

From SNPedia
Carrier of a Canavan disease mutation
Is agenotype
ofrs1057516995
GeneASPA, SPATA22
Chromosome17
Position3,494,446
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Canavan disease mutation
(G;G) 8 Canavan disease (predicted)

Unaffected in absence of a second ASPA gene mutation.