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rs104894635(A;G)

From SNPedia

Carrier for a Sanfilippo syndrome type A mutation
Is agenotype
ofrs104894635
GeneSGSH
Chromosome17
Position80,213,815
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 8 Sanfilippo syndrome type A
(A;G) 3 Carrier for a Sanfilippo syndrome type A mutation
(G;G) 0 common in clinvar

Unaffected unless carrying another pathogenic SGSH gene mutation; see links at rs104894635