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rs104894548(C;T)

From SNPedia
(Redirected from I5006784(C;T))
Carrier of a Canavan disease mutation
Is agenotype
ofrs104894548
GeneASPA, SPATA22
Chromosome17
Position3,483,520
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8 Canavan disease (predicted)
(C;T) 3 Carrier of a Canavan disease mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second ASPA gene mutation.