Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517174
rs1057517174
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		A 0.700 GeneticVariation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992