Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1299207831
rs1299207831
A 0.700 CausalMutation CLINVAR Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. 24875751

2014

dbSNP: rs1299207831
rs1299207831
A 0.700 CausalMutation CLINVAR Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype. 21917494

2011