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rs104894636(C;T)

From SNPedia
Carrier of a Sanfilippo syndrome type A mutation
Is agenotype
ofrs104894636
GeneSGSH
Chromosome17
Position80,217,061
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a Sanfilippo syndrome type A mutation

Unaffected unless carrying another pathogenic SGSH gene mutation