GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
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: rs121908311
rs121908311 		0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908312
rs121908312 		0.925 0.120 1 155239716 missense variant C/G snv
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1237637353
rs1237637353 		0.925 0.120 1 155237579 splice acceptor variant C/G snv 4.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs1376479747
rs1376479747 		1.000 0.120 1 155238200 missense variant C/T snv 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs147138516
rs147138516 		0.925 0.120 1 155238570 missense variant C/G;T snv 1.4E-04; 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs149487315
rs149487315 		1.000 0.120 1 155236269 missense variant C/T snv 2.7E-04 8.9E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557901552
rs1557901552 		1.000 1 155235775 missense variant A/T snv
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 0
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: rs364897
rs364897 		0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs364897
rs364897 		0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs369068553
rs369068553 		1.000 0.120 1 155235205 missense variant C/G;T snv 5.2E-05; 4.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs374591570
rs374591570 		1.000 0.120 1 155238258 missense variant G/A snv 4.1E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs377325220
rs377325220 		1.000 0.120 1 155238621 missense variant T/C snv 8.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs381418
rs381418 		0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 0
dbSNP: rs381418
rs381418 		0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs381418
rs381418 		0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C0268250
Disease: Gaucher Disease, Type 2 (disorder)
Gaucher Disease, Type 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs381418
rs381418 		0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C1856476
Disease: Gaucher Disease, Type Iiic
Gaucher Disease, Type Iiic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs381427
rs381427 		1.000 0.120 1 155238206 missense variant A/C;T snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0