Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758785463
rs758785463
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 GeneticVariation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876

2015
dbSNP: rs758785463
rs758785463
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 GeneticVariation CLINVAR Natural history of Sanfilippo syndrome in Spain. 24314109

2013
dbSNP: rs758785463
rs758785463
NAGLU
CUI: C0086648
Disease: MPS III B
MPS III B 		T 0.700 GeneticVariation CLINVAR We have identified, in amplified exons from nine fibroblast cell lines derived from Sanfilippo syndrome type B patients, 10 additional mutations: Y92H, P115S, Y140C, E153K, R203X, 650insC, 901delAA, P358L, A664V, and L682R. 9443878

1998