Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs185429231
rs185429231
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. 14566483

2003
dbSNP: rs185429231
rs185429231
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis. 12027830

2002
dbSNP: rs185429231
rs185429231
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene. 8484765

1993
dbSNP: rs185429231
rs185429231
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients. 8490625

1993
dbSNP: rs185429231
rs185429231
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease. 1833974

1991