Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376663785
rs376663785
GLB1
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		0.710 GeneticVariation BEFREE A single French patient had a novel missense point mutation (Q408P) together with a known mutation (T500A) while the mentally retarded patients were both heterozygous for two mutations known in chronic GM1 gangliosidosis together with two novel missense point mutations (Y270D and H281Y) in the vicinity of W273L. 11511921

2001