Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934886
rs28934886
GLB1 ; LOC107986073
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.010 GeneticVariation BEFREE The 51Ile----Thr mutant allele expressed a significant amount of beta-galactosidase activity, whereas the 457Arg----Gln mutant allele expressed extremely low activity in human GM1 gangliosidosis fibroblasts. 1353343

1992