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rs118203942(A;G)

From SNPedia
Carrier of a mucopolysaccharidosis type VI mutation
Is agenotype
ofrs118203942
GeneARSB
Chromosome5
Position78,984,965
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;G) 3 Carrier of a mucopolysaccharidosis type VI mutation
(G;G) 0 common in clinvar

Unaffected in absence of a second ARSB gene mutation; clinical presentation varies widely even then.