Gene: HEXA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs755973971
rs755973971
HEXA
0.010 GeneticVariation BEFREE As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10-100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment). 29795570

2018
dbSNP: rs121907970
rs121907970
HEXA
0.020 GeneticVariation BEFREE Recently, an apparently benign C739-to-T (Arg247Trp) mutation was found among individuals with Hex A levels indistinguishable from those of carriers of Tay-Sachs disease. 7902672

1993
dbSNP: rs121907970
rs121907970
HEXA
0.020 GeneticVariation BEFREE We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. 1384323

1992
dbSNP: rs1567295184
rs1567295184
HEXA
C 0.700 GeneticVariation CLINVAR Late-onset Tay-Sachs disease. 28739864

2017
dbSNP: rs1057521137
rs1057521137
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907959
rs121907959
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907968
rs121907968
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907973
rs121907973
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907976
rs121907976
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs121907977
rs121907977
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs1555472604
rs1555472604
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs1555472696
rs1555472696
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs199578185
rs199578185
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs28941771
rs28941771
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs387906310
rs387906310
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs753862880
rs753862880
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

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

2016
dbSNP: rs762255098
rs762255098
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

2016
dbSNP: rs769866128
rs769866128
HEXA
0.700 GeneticVariation UNIPROT Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation. 27682588

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

2016
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: 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: 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