Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772180415
rs772180415
HEXA
A 0.800 GeneticVariation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
dbSNP: rs772180415
rs772180415
HEXA
A 0.800 GeneticVariation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
dbSNP: rs772180415
rs772180415
HEXA
A 0.800 GeneticVariation CLINVAR "Tay-Sach disease with ""cherry-red spot""--first reported case in Malaysia." 22390110

2011
dbSNP: rs772180415
rs772180415
HEXA
A 0.800 CausalMutation CLINVAR

dbSNP: rs772180415
rs772180415
HEXA
T 0.800 CausalMutation CLINVAR