Gene: HEXA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs786204585
rs786204585
HEXA
A 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
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: rs121907966
rs121907966
HEXA
A 0.700 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992