Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907971
rs121907971
HEXA
G 0.810 CausalMutation CLINVAR A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation. 1302612

1992