Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34002892
rs34002892
CUI: C1843367
Disease: Poor school performance
Poor school performance
T 0.700 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425

2014

dbSNP: rs34002892
rs34002892
CUI: C1843367
Disease: Poor school performance
Poor school performance
T 0.700 CausalMutation CLINVAR Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. 20880125

2011

dbSNP: rs34002892
rs34002892
CUI: C1843367
Disease: Poor school performance
Poor school performance
T 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