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rs104894553(A;G)

From SNPedia
Carrier of a (mild) Canavan disease mutation
Is agenotype
ofrs104894553
GeneASPA, SPATA22
Chromosome17
Position3,476,371
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 4 mild Canavan disease
(A;G) 3 Carrier of a (mild) Canavan disease mutation
(G;G) 0 common in clinvar

Unaffected in absence of a second ASPA gene mutation