Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907954
rs121907954
HEXA
0.710 GeneticVariation BEFREE The HEXA gene was first analyzed for the Gly269-->Ser mutation characteristic for adult GM2 gangliosidosis. 9153525

1997
dbSNP: rs121907954
rs121907954
HEXA
T 0.710 CausalMutation CLINVAR

dbSNP: rs10805890
rs10805890
HEXB
0.010 GeneticVariation BEFREE Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype. 8950198

1996