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: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-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: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
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 0.700 0
dbSNP: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-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: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-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: 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: rs1064644
rs1064644 		0.807 0.120 1 155238192 missense variant A/G snv 8.0E-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 0.700 0
dbSNP: rs1064644
rs1064644 		0.807 0.120 1 155238192 missense variant A/G 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: rs1064644
rs1064644 		0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
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: rs1064644
rs1064644 		0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
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: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-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: 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: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 0
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
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 0.700 0
dbSNP: rs1064651
rs1064651 		0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-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 0.700 0
dbSNP: rs1141811
rs1141811 		1.000 0.120 1 155239948 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 0.700 0
dbSNP: rs1178732315
rs1178732315 		0.882 0.240 1 155236381 missense variant A/G 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: 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: rs121908303
rs121908303 		1.000 0.120 1 155237577 missense variant A/C 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 0.700 0
dbSNP: rs121908308
rs121908308 		0.925 0.120 1 155236295 missense variant G/A;C snv 8.0E-06
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: rs121908309
rs121908309 		0.925 0.120 1 155236277 stop gained G/A 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 0.700 0
dbSNP: rs121908311
rs121908311 		0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06
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: rs121908311
rs121908311 		0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06
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