Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.010 GeneticVariation BEFREE Autopsy findings of a patient, with sialidosis type I phenotype carrying V217M/G243R mutations in the lysosomal sialidase gene and biochemically defined isolated sialidase deficiency, who died of intractable lymphoma at the age of 32 years, are described. 19415310

2010