GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: GAUCHER DISEASE, PERINATAL LETHAL ×
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: rs78198234
rs78198234 		1.000 0.120 1 155236420 missense variant T/A;C snv 4.0E-06
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1999 2002