Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204721
rs786204721
HEXA ; HEXA-AS1
G 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: rs786204721
rs786204721
HEXA ; HEXA-AS1
G 0.700 GeneticVariation CLINVAR Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translation. 11161796

2001
dbSNP: rs786204721
rs786204721
HEXA ; HEXA-AS1
G 0.700 CausalMutation CLINVAR 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: rs786204721
rs786204721
HEXA ; HEXA-AS1
G 0.700 GeneticVariation CLINVAR Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells? 3837850

1985