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: rs1057519357
rs1057519357 		1.000 0.120 1 155235792 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 0.700 1.000 20 1990 2006
dbSNP: rs1161552095
rs1161552095 		0.925 0.120 1 155236307 missense variant C/T snv 4.0E-06 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 1.000 20 1990 2006
dbSNP: rs121908308
rs121908308 		0.925 0.120 1 155236295 missense variant G/A;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 1.000 20 1990 2006
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.100 0.950 20 2004 2019
dbSNP: rs1296507371
rs1296507371 		0.925 0.120 1 155237433 missense variant G/T 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 1.000 20 1990 2006
dbSNP: rs1362103320
rs1362103320 		1.000 0.120 1 155235201 missense variant A/G 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 1.000 20 1990 2006
dbSNP: rs1392291885
rs1392291885 		1.000 0.120 1 155236255 missense variant C/T snv 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 0.700 1.000 20 1990 2006
dbSNP: rs1441909908
rs1441909908 		1.000 0.120 1 155238588 missense variant T/G 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 1.000 20 1990 2006
dbSNP: rs1450426641
rs1450426641 		0.851 0.160 1 155235820 missense variant A/C 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 1.000 20 1990 2006
dbSNP: rs1553216985
rs1553216985 		1.000 0.120 1 155235721 missense variant A/T 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 1.000 20 1990 2006
dbSNP: rs368060
rs368060 		0.882 0.200 1 155235217 missense variant C/G snv 1.4E-04 7.7E-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 1.000 20 1990 2006
dbSNP: rs61748906
rs61748906 		0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 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 1.000 20 1990 2006
dbSNP: rs74462743
rs74462743 		0.925 0.120 1 155238194 missense variant C/T 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 1.000 20 1990 2006
dbSNP: rs74979486
rs74979486 		1.000 0.120 1 155236276 missense variant C/T snv 7.0E-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 1.000 20 1990 2006
dbSNP: rs75548401
rs75548401 		0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03
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 1.000 20 1990 2006
dbSNP: rs75564605
rs75564605 		1.000 0.120 1 155235747 missense variant A/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 0.700 1.000 20 1990 2006
dbSNP: rs76228122
rs76228122 		1.000 0.120 1 155236264 missense variant T/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 1.000 20 1990 2006
dbSNP: rs76500263
rs76500263 		1.000 0.120 1 155238293 missense variant T/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 0.700 1.000 20 1990 2006
dbSNP: rs76910485
rs76910485 		1.000 0.120 1 155235780 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 0.700 1.000 20 1990 2006
dbSNP: rs773007510
rs773007510 		1.000 0.120 1 155240029 missense variant C/G 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 1.000 20 1990 2006
dbSNP: rs77369218
rs77369218 		0.807 0.160 1 155235726 missense variant T/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 20 1990 2006
dbSNP: rs77451368
rs77451368 		1.000 0.120 1 155238173 missense variant C/T 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 1.000 20 1990 2006
dbSNP: rs781306264
rs781306264 		1.000 0.120 1 155236331 missense variant C/T 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 1.000 20 1990 2006
dbSNP: rs78188205
rs78188205 		1.000 0.120 1 155236399 missense variant G/T 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 1.000 20 1990 2006
dbSNP: rs79796061
rs79796061 		0.925 0.120 1 155238608 missense variant T/A snv 8.0E-06 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 0.700 1.000 20 1990 2006