Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72555390
rs72555390
GLB1
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.020 GeneticVariation BEFREE In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, β-Gal(R201C) and β-Gal(I51T). 24737316

2014
dbSNP: rs72555390
rs72555390
GLB1
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.020 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