rs421016, GBA

N. diseases: 15
Source: CURATED ×
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 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
114 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.850 1.000 0 2011 2019
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
41 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.800 1.000 6 1991 2019
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
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
6 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.730 1.000 0 2016 2018
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
17 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.710 1.000 0 2018 2018
DEMENTIA, LEWY BODY, SUSCEPTIBILITY TO
CUI: C2676021
Disease: 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
240 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
29 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
1 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
15 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0