Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs76763715
rs76763715
GBA
0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.850 1.000 2 1988 2018
dbSNP: rs421016
rs421016
GBA
0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.850 1.000 0 2011 2019
dbSNP: rs1064651
rs1064651
GBA
0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 2 1990 2010
dbSNP: rs75822236
rs75822236
GBA
0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.810 1.000 2 1993 2017
dbSNP: rs2230288
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 31 1990 2014
dbSNP: rs80356769
rs80356769
GBA
0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1989 2011
dbSNP: rs80356771
rs80356771
GBA
0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 20 1990 2014
dbSNP: rs364897
rs364897
GBA
0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.810 1.000 20 1990 2006
dbSNP: rs77369218
rs77369218
GBA
0.807 0.160 1 155235726 missense variant T/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 20 1990 2006
dbSNP: rs121908311
rs121908311
GBA
0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs398123527
rs398123527
GBA
0.827 0.120 1 155236298 missense variant C/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs398123532
rs398123532
GBA
0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs409652
rs409652
GBA
0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs1450426641
rs1450426641
GBA
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
0.700 1.000 20 1990 2006
dbSNP: rs61748906
rs61748906
GBA
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
0.800 1.000 20 1990 2006
dbSNP: rs74500255
rs74500255
GBA
0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 2 2008 2009
dbSNP: rs381418
rs381418
GBA
0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs398123530
rs398123530
GBA
0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs368060
rs368060
GBA
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
0.700 1.000 20 1990 2006
dbSNP: rs75548401
rs75548401
GBA
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
0.700 1.000 20 1990 2006
dbSNP: rs80356763
rs80356763
GBA
0.882 0.120 1 155238596 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
dbSNP: rs1553217009
rs1553217009
GBA
0.882 0.120 1 155235757 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs367968666
rs367968666
GBA
0.882 0.120 1 155237458 missense variant A/C snv 2.4E-04 1.6E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs747506979
rs747506979
GBA
0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 2 2008 2009
dbSNP: rs1178732315
rs1178732315
GBA
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
0.700 0