Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 GeneticVariation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR Three novel mutations in Iranian patients with Tay-Sachs disease. 24518553

2014
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 GeneticVariation CLINVAR GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. 22789865

2012
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 CausalMutation CLINVAR GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. 21567908

2011
dbSNP: rs786204585
rs786204585
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 GeneticVariation CLINVAR GM2 gangliosidosis in Saudi Arabia: multiple mutations and considerations for future carrier screening. 21567908

2011