Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR Structural consequences of amino acid substitutions causing Tay-Sachs disease. 18490185

2008
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. 17237499

2007
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. 17015493

2006
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. 16088929

2005
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. 16088929

2005
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. 14566483

2003
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625

1993
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 GeneticVariation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992
dbSNP: rs121907966
rs121907966
HEXA
A 0.810 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992