Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555472161
rs1555472161
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		AG 0.700 GeneticVariation CLINVAR Biochemical consequences of mutations causing the GM2 gangliosidoses. 10571007

1999
dbSNP: rs1555472161
rs1555472161
HEXA
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		AG 0.700 GeneticVariation CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157

1997