GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Parkinsonian 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: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.730 1.000 3 2016 2018
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.020 1.000 2 2013 2016
dbSNP: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.020 1.000 2 2013 2016