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rs794729202(A;T)

From SNPedia
Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
Is agenotype
ofrs794729202
GeneGALNS, TRAPPC2L, LOC107983950
Chromosome16
Position88,856,831
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;T) 3 Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
(T;T) 0 common in clinvar

Unaffected in absence of a second GALNS gene mutation