GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease, Type 3 (disorder) ×
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: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0