HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907985
rs121907985
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C4310842
Disease:
SANDHOFF DISEASE, CHRONIC
T 0.700 CausalMutation CLINVAR