rs421016, GBA

N. diseases: 30
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.
Gaucher Disease, Type 2 (disorder)
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
34 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.800 0
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
2 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Expressionless face
CUI: C0813217
Disease: Expressionless face
1 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Gaucher Disease, Type 3 (disorder)
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
26 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Gaucher Disease, Type Iiic
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
19 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
76 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Resting Tremor
CUI: C0234379
Disease: Resting Tremor
5 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.710 1.000 1 2018 2018
Atypical Parkinsonism
CUI: C4302185
Disease: Atypical Parkinsonism
6 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2011 2011
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
10 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 1998 1998
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2014 2014
Depressed mood
CUI: C0344315
Disease: Depressed mood
269 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2016 2016
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2016 2016
Depressive Symptoms
CUI: C0086132
Disease: Depressive Symptoms
120 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2020 2020
Essential Tremor
CUI: C0270736
Disease: Essential Tremor
79 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2020 2020
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
41 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2019 2019
Mental Depression
CUI: C0011570
Disease: Mental Depression
271 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2016 2016
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2018 2018
Sepsis
CUI: C0243026
Disease: Sepsis
144 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013
Septicemia
CUI: C0036690
Disease: Septicemia
141 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2013 2013