Gene: HEXA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1567295184
rs1567295184
HEXA
C 0.700 GeneticVariation CLINVAR Late-onset Tay-Sachs disease. 28739864

2017
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population. 28503624

2019
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697

2017
dbSNP: rs121907954
rs121907954
HEXA
G 0.830 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs121907953
rs121907953
HEXA
A 0.800 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs1057519458
rs1057519458
HEXA
T 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs1057519459
rs1057519459
HEXA
G 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs1057519460
rs1057519460
HEXA
G 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs150675340
rs150675340
HEXA
A 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
dbSNP: rs762060470
rs762060470
HEXA
T 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

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: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. 27033294

2016
dbSNP: rs76173977
rs76173977
HEXA
T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs770932296
rs770932296
HEXA
T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs121907964
rs121907964
HEXA ; HEXA-AS1
T 0.700 CausalMutation CLINVAR The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis. 25606403

2014
dbSNP: rs121907956
rs121907956
HEXA
T 0.800 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 25557439

2015
dbSNP: rs764343937
rs764343937
HEXA
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. 25287655

2015
dbSNP: rs1555472406
rs1555472406
HEXA
AGGAT 0.700 CausalMutation CLINVAR Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq. 25287655

2015
dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.710 CausalMutation CLINVAR Molecular study of lysosomal storage disorders in India. 24940364

2014
dbSNP: rs121907956
rs121907956
HEXA
T 0.800 CausalMutation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
dbSNP: rs587779406
rs587779406
HEXA
A 0.700 GeneticVariation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014
dbSNP: rs987036804
rs987036804
HEXA ; HEXA-AS1
T 0.700 CausalMutation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253

2014