Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR As previously reported, the c.533G>A (p.R178H) mutation was present either in homozygosity or as compound heterozygote, in all the patients with the late onset TSD form (B1 Variant); the allele frequency in this group is discussed by comparison with that found in infantile TSD. 16088929

2005
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Active arginine residues in beta-hexosaminidase. Identification through studies of the B1 variant of Tay-Sachs disease. 1831451

1991
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal. 1832817

1991
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Mutation in GM2-gangliosidosis B1 variant. 2961848

1988
dbSNP: rs28941770
rs28941770
HEXA
A 0.820 CausalMutation CLINVAR