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rs104894549(A;C)

From SNPedia
(Redirected from I5000055(A;C))
Carrier of a Canavan disease mutation
Is agenotype
ofrs104894549
GeneASPA, SPATA22
Chromosome17
Position3,494,369
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8 Canavan disease (predicted)
(A;C) 3 Carrier of a Canavan disease mutation
(C;C) 0 common in clinvar

Unaffected in absence of a second ASPA gene mutation.