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rs121907936(C;T)

From SNPedia
Carrier of a GAA gene mutation likely to be pathogenic (for Pompe disease)
Is agenotype
ofrs121907936
GeneGAA
Chromosome17
Position80,107,894
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;T) 3 Carrier of a GAA gene mutation likely to be pathogenic (for Pompe disease)
(T;T) 0 common in clinvar

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