Gene: HEXA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519463
rs1057519463
HEXA
G 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519464
rs1057519464
HEXA
G 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs1057519468
rs1057519468
HEXA
T 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

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

2014
dbSNP: rs1057519467
rs1057519467
HEXA
T 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs121907972
rs121907972
HEXA
A 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs121907960
rs121907960
HEXA
T 0.700 GeneticVariation CLINVAR Natural history of infantile G(M2) gangliosidosis. 22025593

2011
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Natural history of infantile G(M2) gangliosidosis. 22025593

2011
dbSNP: rs587779406
rs587779406
HEXA
A 0.700 GeneticVariation CLINVAR Natural history of infantile G(M2) gangliosidosis. 22025593

2011
dbSNP: rs121907960
rs121907960
HEXA
T 0.700 GeneticVariation CLINVAR Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. 19858779

2010
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. 19858779

2010
dbSNP: rs587779406
rs587779406
HEXA
A 0.700 GeneticVariation CLINVAR Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. 19858779

2010
dbSNP: rs121907960
rs121907960
HEXA
T 0.700 GeneticVariation CLINVAR Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. 19330222

2009
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. 19330222

2009
dbSNP: rs587779406
rs587779406
HEXA
A 0.700 GeneticVariation CLINVAR Late-onset hexosaminidase A deficiency mimicking primary lateral sclerosis. 19330222

2009
dbSNP: rs121907960
rs121907960
HEXA
T 0.700 GeneticVariation CLINVAR The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732

2007
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732

2007
dbSNP: rs587779406
rs587779406
HEXA
A 0.700 GeneticVariation CLINVAR The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. 17412732

2007
dbSNP: rs121907960
rs121907960
HEXA
T 0.700 GeneticVariation CLINVAR ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease. 16199656

2005
dbSNP: rs121907960
rs121907960
HEXA
T 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: rs121907960
rs121907960
HEXA
T 0.700 GeneticVariation CLINVAR Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. 15714079

2005
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation 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