GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
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: rs1289324472
rs1289324472
0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2014 2017