rs2230288, GBA

N. diseases: 18
Source: ALL
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
990 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.790 1.000 10 2012 2019
Dementia
CUI: C0497327
Disease: Dementia
176 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, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
124 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 1.000 31 1990 2014
Cogwheel Rigidity
CUI: C0151564
Disease: Cogwheel Rigidity
1 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Muscle Rigidity
CUI: C0026837
Disease: Muscle Rigidity
25 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Serum lipids high (finding)
CUI: C0428465
Disease: Serum lipids high (finding)
7 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Speech Disorders
CUI: C0037822
Disease: Speech Disorders
7 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
82 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
348 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
121 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
96 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
76 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2016 2016