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rs386834236(T;T)
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common in clinvar
Is a
genotype
of
rs386834236
Gene
GAA
Chromosome
17
Position
80,104,542
mentioned
by
Magnitude
0
Repute
Good
Geno
Mag
Summary
(G;G)
5
Likely to have Pompe disease
(G;T)
3
Unaffected carrier of a Pompe disease (adult onset GSD II) mutation
(T;T)
0
common in clinvar
Category
:
Is a genotype
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