GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7
Disease: Spastic Paraplegia ×
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: rs1448182827
rs1448182827 		1.000 0.080 9 35738148 frameshift variant G/- del 8.0E-06 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0