Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation BEFREE Therefore, the reconstructed history of R234C explains the high incidence of the mutation in Iberian patients with Sanfilippo B disease. 18218046

2008

dbSNP: rs104894601
rs104894601
T 0.810 CausalMutation CLINVAR Therefore, the reconstructed history of R234C explains the high incidence of the mutation in Iberian patients with Sanfilippo B disease. 18218046

2008

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). 16151907

2005

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 15933803

2005

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Sanfilippo B syndrome: molecular defects in Greek patients. 14984474

2004

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. 12202988

2002

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. 11793481

2002

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 11836372

2002

dbSNP: rs104894601
rs104894601
T 0.810 CausalMutation CLINVAR Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations. 11286389

2001

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations. 11286389

2001

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. 11153910

2000

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. 11068184

2000

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 10094189

1999

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. 9950362

1999

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 9832037

1998

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT NAGLU mutations underlying Sanfilippo syndrome type B. 9443878

1998

dbSNP: rs104894601
rs104894601
T 0.810 CausalMutation CLINVAR Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 9832037

1998

dbSNP: rs104894601
rs104894601
0.810 GeneticVariation UNIPROT Genotype-phenotype correspondence in Sanfilippo syndrome type B. 9443875

1998

dbSNP: rs104894590
rs104894590
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017

dbSNP: rs104894594
rs104894594
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017

dbSNP: rs104894595
rs104894595
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017

dbSNP: rs104894596
rs104894596
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017

dbSNP: rs104894597
rs104894597
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017

dbSNP: rs104894598
rs104894598
0.800 GeneticVariation UNIPROT Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. 28101780

2017