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: rs78973108
rs78973108 		0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05
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 0.700 0