Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 CausalMutation CLINVAR Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. 21796138

2011
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 CausalMutation CLINVAR Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991
dbSNP: rs121907963
rs121907963
HEXA
A 0.700 GeneticVariation CLINVAR Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. 1837283

1991