GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease ×
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: rs61748906
rs61748906 		0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 2000 2015