Gene: HEXA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. 8445615

1993
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625

1993
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. 1302612

1992
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. 1301189

1992
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT Novel Tay-Sachs disease mutations from China. 1301190

1992
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
0.820 GeneticVariation UNIPROT Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679

1989
dbSNP: rs28941770
rs28941770
HEXA
T 0.820 CausalMutation CLINVAR Mutation in GM2-gangliosidosis B1 variant. 2961848

1988
dbSNP: rs28941770
rs28941770
HEXA
0.820 GeneticVariation UNIPROT A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant. 2970528

1988
dbSNP: rs28941770
rs28941770
HEXA
A 0.820 CausalMutation CLINVAR

dbSNP: rs121907966
rs121907966
HEXA
0.810 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907971
rs121907971
HEXA
0.810 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
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 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
0.810 GeneticVariation UNIPROT Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs121907971
rs121907971
HEXA
0.810 GeneticVariation UNIPROT Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs121907966
rs121907966
HEXA
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs121907966
rs121907966
HEXA
0.810 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
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