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: rs2230288
rs2230288
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs75548401
rs75548401
0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
Mental Disorders 0.010 1.000 1 2019 2019