Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865024
rs281865024
GNPTAB
A 0.700 CausalMutation CLINVAR Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis. 24798265

2015
dbSNP: rs281865024
rs281865024
GNPTAB
A 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621

2006