GBA, glucosylceramidase beta, 2629

N. diseases: 220; N. variants: 79
Disease: Parkinson Disease ×
Source: INFERRED ×
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: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.790 1.000 1 2012 2019