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: rs878853314
rs878853314 		0.882 0.240 1 155239655 missense variant C/G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs80356772
rs80356772 		0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0751378
Disease: Neurologic Signs
Neurologic Signs 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
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: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0234379
Disease: Resting Tremor
Resting Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0085623
Disease: Akinesia
Akinesia 		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: 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: 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: rs76763715
rs76763715 		0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0243026
Disease: Sepsis
Sepsis 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2013 2013
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0036690
Disease: Septicemia
Septicemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2013 2013
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 1 2018 2018
dbSNP: rs121908302
rs121908302 		1.000 0.120 1 155240033 missense variant C/A snv
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs747506979
rs747506979 		0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs878853315
rs878853315 		0.925 0.160 1 155236292 missense variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs878853320
rs878853320 		1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs878853314
rs878853314 		0.882 0.240 1 155239655 missense variant C/G snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs878853315
rs878853315 		0.925 0.160 1 155236292 missense variant G/C snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs878853317
rs878853317 		1.000 0.120 1 155235241 missense variant C/T snv
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs878853320
rs878853320 		1.000 0.120 1 155235303 missense variant A/C snv 4.0E-06
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		Pathological Conditions, Signs and Symptoms 0.700 0