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: rs421016
rs421016
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 29 1991 2019
dbSNP: rs76763715
rs76763715
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 0.966 29 1994 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: 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: rs80356771
rs80356771
0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-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 0.710 1.000 4 1994 2007
dbSNP: rs409652
rs409652
0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-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 3 1997 2003
dbSNP: rs75822236
rs75822236
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-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 3 1993 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: rs80356772
rs80356772
0.790 0.160 1 155235195 missense variant C/T 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 0.710 1.000 1 2011 2011
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: rs80356768
rs80356768
0.882 0.120 1 155235750 frameshift variant ACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGG/- 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 5 1993 2016
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: 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: 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: rs61748906
rs61748906
0.851 0.120 1 155238228 missense variant A/G 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 4 2000 2015
dbSNP: rs749714463
rs749714463
1.000 0.120 1 155238299 frameshift variant AG/- 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 4 2005 2008
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: rs398123527
rs398123527
0.827 0.120 1 155236298 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 3 1997 2018
dbSNP: rs398123532
rs398123532
0.827 0.120 1 155238270 missense variant G/A snv 1.3E-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 2000 2006
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: 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