Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907960
rs121907960
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		T 0.700 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: rs121907960
rs121907960
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		T 0.700 GeneticVariation CLINVAR Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. 1322637

1992
dbSNP: rs121907960
rs121907960
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		T 0.700 CausalMutation CLINVAR Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population. 1322637

1992
dbSNP: rs121907960
rs121907960
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		T 0.700 GeneticVariation CLINVAR Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991
dbSNP: rs121907960
rs121907960
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		T 0.700 GeneticVariation CLINVAR Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase. 1825014

1991