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: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-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 0.800 1.000 9 1990 2010
dbSNP: rs121908295
rs121908295 		0.925 0.120 1 155235708 missense variant G/C snv
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 0.800 1.000 9 1995 2014
dbSNP: rs121908305
rs121908305 		1.000 0.120 1 155236379 missense variant C/T snv 8.0E-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 0.800 1.000 9 1995 2014
dbSNP: rs121908306
rs121908306 		1.000 0.120 1 155236328 missense variant A/C snv
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 0.800 1.000 9 1995 2014
dbSNP: rs364897
rs364897 		0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04
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 0.800 1.000 3 1996 2014
dbSNP: rs1141814
rs1141814 		0.925 0.120 1 155239934 missense variant G/A snv 2.8E-05 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 0.800 1.000 2 2008 2009
dbSNP: rs121908310
rs121908310 		0.925 0.120 1 155235760 missense variant C/A;G snv 4.0E-06
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1999 2002
dbSNP: rs121908313
rs121908313 		0.925 0.120 1 155237470 missense variant G/T snv
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1999 2002
dbSNP: rs74500255
rs74500255 		0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 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 0.800 1.000 2 2008 2009
dbSNP: rs74598136
rs74598136 		0.925 0.120 1 155235750 missense variant G/A snv
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 1.000 2 2008 2009
dbSNP: rs747506979
rs747506979 		0.882 0.160 1 155235003 missense variant G/A 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 0.800 1.000 2 2008 2009
dbSNP: rs78198234
rs78198234 		1.000 0.120 1 155236420 missense variant T/A;C snv 4.0E-06
CUI: C1842704
Disease: GAUCHER DISEASE, PERINATAL LETHAL
GAUCHER DISEASE, PERINATAL LETHAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 1999 2002
dbSNP: rs1064644
rs1064644 		0.807 0.120 1 155238192 missense variant A/G snv 8.0E-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 0.800 0
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-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 0.800 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: rs398123527
rs398123527 		0.827 0.120 1 155236298 missense variant C/G snv
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: rs398123530
rs398123530 		0.851 0.120 1 155238597 missense variant G/A snv 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 0.800 0
dbSNP: rs398123530
rs398123530 		0.851 0.120 1 155238597 missense variant G/A snv 4.0E-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 0.800 0
dbSNP: rs398123532
rs398123532 		0.827 0.120 1 155238270 missense variant G/A snv 1.3E-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: rs409652
rs409652 		0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-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 0.800 0
dbSNP: rs409652
rs409652 		0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-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: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
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 0.800 0
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.790 1.000 10 2012 2019
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.760 1.000 7 1995 2019
dbSNP: rs421016
rs421016 		0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.730 1.000 3 2016 2018