rs2230288, GBA

N. diseases: 9
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
751 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.790 1.000 9 2012 2019
Dementia
CUI: C0497327
Disease: Dementia
165 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.720 1.000 2 2016 2016
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
50 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.040 0.750 4 2004 2019
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
47 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2019
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
223 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2019
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.020 1.000 2 2016 2016
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
90 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2019 2019
Mild cognitive disorder
CUI: C1270972
Disease: Mild cognitive disorder
94 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
48 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016