Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906309
rs387906309
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: rs387906309
rs387906309
GGATA 0.700 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014

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

2012