Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 GeneticVariation CLINVAR Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. 27021291

2016
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff 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: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff 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: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 CausalMutation CLINVAR New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. 20798201

2010
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 GeneticVariation CLINVAR New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. 20798201

2010
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 GeneticVariation CLINVAR The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. 17015493

2006
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 GeneticVariation CLINVAR Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient. 2147031

1990
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 GeneticVariation CLINVAR Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase. 2170400

1990
dbSNP: rs201580118
rs201580118
HEXB
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		A 0.700 CausalMutation CLINVAR Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12. 2522450

1989