Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1244655820
rs1244655820
T 0.700 GeneticVariation CLINVAR Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 18218046

2008

dbSNP: rs1244655820
rs1244655820
T 0.700 CausalMutation CLINVAR Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 18218046

2008