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rs118204448(G;T)

From SNPedia
Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
Is agenotype
ofrs118204448
GeneGALNS
Chromosome16
Position88,835,240
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;G) 3 Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation

Unaffected in absence of a second GALNS gene mutation