Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907954
rs121907954
HEXA
G 0.830 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: role of alternative splicing and nonsense-mediated mRNA decay. 20363167

2010
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. 15714079

2005
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. 8328462

1993
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program. 2220809

1990
dbSNP: rs121907954
rs121907954
HEXA
T 0.830 CausalMutation CLINVAR The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease. 2522679

1989