Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs192732174
rs192732174
GLB1
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.710 GeneticVariation BEFREE Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis. 10839995

2000