PSAP, prosaposin, 5660

N. diseases: 189; N. variants: 15
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: rs779322625
rs779322625 		1.000 0.120 10 71819083 missense variant G/A snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2017 2019