Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204024
rs118204024
NAGLU
0.710 GeneticVariation BEFREE This paper describes the expression and characterisation of wild-type recombinant NAG and the molecular characterisation of a previously identified R297X/F48L compound heterozygous MPS-IIIB patient with attenuated Sanfilippo syndrome. 11068184

2000
dbSNP: rs118204024
rs118204024
NAGLU
C 0.710 CausalMutation CLINVAR