GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease ×
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: rs773409311
rs773409311 		0.925 0.120 1 155238186 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2002 2006
dbSNP: rs78973108
rs78973108 		0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2007 2016
dbSNP: rs80356769
rs80356769 		0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 1989 2014
dbSNP: rs104886460
rs104886460 		0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1992 2012
dbSNP: rs1064644
rs1064644 		0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2000 2000
dbSNP: rs121908295
rs121908295 		0.925 0.120 1 155235708 missense variant G/C snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1991 2017
dbSNP: rs121908311
rs121908311 		0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2000 2011
dbSNP: rs1553217009
rs1553217009 		0.882 0.120 1 155235757 missense variant C/T snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2005 2006
dbSNP: rs1553217879
rs1553217879 		1.000 0.120 1 155238265 frameshift variant G/- delins
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs387906315
rs387906315 		0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1991 2000
dbSNP: rs754743440
rs754743440 		1.000 0.120 1 155235819 stop gained C/T snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2006 2008
dbSNP: rs77829017
rs77829017 		0.925 0.120 1 155239939 missense variant C/T snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2011 2015
dbSNP: rs79796061
rs79796061 		0.925 0.120 1 155238608 missense variant T/A snv 8.0E-06 2.8E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2006 2006
dbSNP: rs867929413
rs867929413 		1.000 0.120 1 155238242 stop gained C/T snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1997 2013
dbSNP: rs121908313
rs121908313 		0.925 0.120 1 155237470 missense variant G/T snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1317187144
rs1317187144 		0.851 0.120 1 155239889 missense variant T/C snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1327336561
rs1327336561 		1.000 0.120 1 155235089 missense variant T/C snv 8.5E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1366567865
rs1366567865 		1.000 0.120 1 155237426 frameshift variant G/- delins
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1450426641
rs1450426641 		0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs149171124
rs149171124 		1.000 0.120 1 155235790 stop gained C/A;T snv 1.7E-04
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs1553217294
rs1553217294 		0.925 0.120 1 155236417 missense variant C/G snv
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1553217314
rs1553217314 		1.000 0.120 1 155236440 frameshift variant A/- del
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2000 2000
dbSNP: rs367968666
rs367968666 		0.882 0.120 1 155237458 missense variant A/C snv 2.4E-04 1.6E-04
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs381737
rs381737 		0.851 0.120 1 155238141 missense variant A/C;T snv 4.0E-06; 4.4E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 1 2008 2008
dbSNP: rs398123526
rs398123526 		0.925 0.120 1 155236409 missense variant C/G;T snv 1.2E-05; 4.0E-06
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016