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rs121965022(A;C)

From SNPedia
Carrier of a mucopolysaccharidosis type 1 mutation
Is agenotype
ofrs121965022
GeneIDUA, SLC26A1
Chromosome4
Position987,842
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;C) 3 Carrier of a mucopolysaccharidosis type 1 mutation
(C;C) 0 common in clinvar

Unaffected in absence of a second IDUA gene mutation