GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Neurodegenerative Disorders ×
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: rs75548401
rs75548401 		0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2018 2018