Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148789453
rs148789453
IDUA
0.720 GeneticVariation BEFREE Structural and bioinformatics analysis of the L238Q suggest that this mutation causes a significant reduction in the IDUA enzyme's potential catalytic activity, and this mutation may be more severe than other mutations contributing to the Hurler-Scheie syndrome phenotype, presumably causing the psychiatric disease. 31304092

2019
dbSNP: rs148789453
rs148789453
IDUA
0.720 GeneticVariation BEFREE Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 24368159

2014
dbSNP: rs148789453
rs148789453
IDUA
0.720 GeneticVariation UNIPROT