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rs144143780(C;T)

From SNPedia
Carrier for a Sanfilippo syndrome type A mutation
Is agenotype
ofrs144143780
GeneSGSH
Chromosome17
Position80,210,822
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 8 Sanfilippo syndrome type A
(C;T) 3 Carrier for a Sanfilippo syndrome type A mutation
(T;T) 0 common/normal

Unaffected unless carrying another pathogenic SGSH gene mutation; see links at rs144143780