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rs118204436(C;T)

From SNPedia
Carrier of an Mucopolysaccharidosis, MPS-IV-A mutation
Is agenotype
ofrs118204436
GeneGALNS
Chromosome16
Position88,841,001
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;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