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rs118204441(C;G)

From SNPedia
Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
Is agenotype
ofrs118204441
GeneGALNS
Chromosome16
Position88,841,936
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation

Unaffected in absence of a second GALNS gene mutation