HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Disease: SANDHOFF DISEASE, CHRONIC ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907985
rs121907985 		0.925 0.120 5 74720644 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C4310842
Disease: SANDHOFF DISEASE, CHRONIC
SANDHOFF DISEASE, CHRONIC 		0.700 0