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rs104894643(C;G)

From SNPedia
Carrier of a Sanfilippo syndrome type A mutation
Is agenotype
ofrs104894643
GeneSGSH
Chromosome17
Position80,214,218
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;G) 3 Carrier of a Sanfilippo syndrome type A mutation
(G;G) 0 common in clinvar

Unaffected unless carrying another pathogenic SGSH gene mutation