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: 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: 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: rs1141814
rs1141814 		0.925 0.120 1 155239934 missense variant G/A snv 2.8E-05 1.4E-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 4 1997 2007
dbSNP: rs1161552095
rs1161552095 		0.925 0.120 1 155236307 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 < 0.001 1 2012 2012
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: rs121908309
rs121908309 		0.925 0.120 1 155236277 stop gained G/A 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 4 1994 2016
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: 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: rs1237637353
rs1237637353 		0.925 0.120 1 155237579 splice acceptor variant C/G 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 3 2007 2018
dbSNP: rs1289324472
rs1289324472 		0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.100 0.962 26 1998 2019
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: rs147138516
rs147138516 		0.925 0.120 1 155238570 missense variant C/G;T snv 1.4E-04; 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 7 1991 2016
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: 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: 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: 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: rs1557901325
rs1557901325 		1.000 0.120 1 155235712 stop gained G/A 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 4 1995 2011
dbSNP: rs2230288
rs2230288 		0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.040 0.750 4 2004 2019
dbSNP: rs364897
rs364897 		0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04
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 8 2004 2019
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