HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: Sandhoff Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779328596
rs779328596
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.700 GeneticVariation CLINVAR Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. 8162015 1994
dbSNP: rs779328596
rs779328596
Entrez Id: 3074
Gene Symbol: HEXB
HEXB
CUI: C0036161
Disease:
Sandhoff Disease 		T 0.700 GeneticVariation CLINVAR Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease. 1532910 1992