Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907965
rs121907965
HEXA ; HEXA-AS1
C 0.700 CausalMutation CLINVAR Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population. 21796138

2011
dbSNP: rs121907965
rs121907965
HEXA ; HEXA-AS1
C 0.700 CausalMutation CLINVAR Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus. 18358410

2008
dbSNP: rs121907965
rs121907965
HEXA ; HEXA-AS1
C 0.700 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992
dbSNP: rs121907965
rs121907965
HEXA ; HEXA-AS1
G 0.700 GeneticVariation CLINVAR