Gene: HEXB ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554036943
rs1554036943
HEXB
G 0.700 GeneticVariation CLINVAR Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. 27021291

2016
dbSNP: rs201580118
rs201580118
HEXB
A 0.700 GeneticVariation CLINVAR Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease. 27021291

2016
dbSNP: rs761117459
rs761117459
HEXB
A 0.700 CausalMutation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265

2016
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
T 0.700 GeneticVariation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265

2016
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
T 0.700 GeneticVariation CLINVAR Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. 27682710

2016
dbSNP: rs794727091
rs794727091
HEXB
T 0.700 GeneticVariation CLINVAR Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease. 26582265

2016
dbSNP: rs1554035308
rs1554035308
HEXB
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs5030731
rs5030731
HEXB
A 0.700 GeneticVariation CLINVAR Chaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts. 24356898

2014
dbSNP: rs1309123671
rs1309123671
HEXB
A 0.700 GeneticVariation CLINVAR Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. 23010210

2013
dbSNP: rs373979283
rs373979283
HEXB
G 0.700 GeneticVariation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579

2013
dbSNP: rs573447174
rs573447174
HEXB
G 0.700 GeneticVariation CLINVAR Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. 23046579

2013
dbSNP: rs1554034452
rs1554034452
HEXB
A 0.700 GeneticVariation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012
dbSNP: rs201580118
rs201580118
HEXB
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
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: rs373979283
rs373979283
HEXB
G 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: rs5030731
rs5030731
HEXB
A 0.700 GeneticVariation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012
dbSNP: rs5030731
rs5030731
HEXB
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: rs753823903
rs753823903
HEXB
T 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: rs761197472
rs761197472
HEXB
A 0.700 CausalMutation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
T 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: rs764552042
rs764552042
HEXB ; GFM2
T 0.700 CausalMutation CLINVAR Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. 23113155

2012
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
T 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: rs764552042
rs764552042
HEXB ; GFM2
T 0.700 GeneticVariation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
T 0.700 GeneticVariation CLINVAR Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients. 23113155

2012
dbSNP: rs764552042
rs764552042
HEXB ; GFM2
T 0.700 CausalMutation CLINVAR Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. 22848519

2012