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rs138504221(A;G)

From SNPedia
Carrier of a Sanfilippo syndrome type A mutation
Is agenotype
ofrs138504221
GeneSGSH
Chromosome17
Position80,212,128
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Carrier of a Sanfilippo syndrome type A mutation

Unaffected unless carrying another pathogenic SGSH gene mutation