Have questions? Visit https://www.reddit.com/r/SNPedia

rs104894552(A;T)

From SNPedia
(Redirected from I5006787(A;T))
Carrier of a Canavan disease mutation
Is agenotype
ofrs104894552
GeneASPA, SPATA22
Chromosome17
Position3,498,892
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3 Carrier of a Canavan disease mutation
(T;T) 8 Canavan disease (predicted)

Unaffected in absence of a second ASPA gene mutation.