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: 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: 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: 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: rs77834747
rs77834747
GBA
1.000 0.120 1 155238632 missense variant A/C;G snv 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 29 1990 2014
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: rs381427
rs381427
GBA
1.000 0.120 1 155238206 missense variant A/C;T snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs77933015
rs77933015
GBA
1.000 0.120 1 155238296 missense variant A/C;T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs121908300
rs121908300
GBA
1.000 0.120 1 155238144 missense variant A/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs1362103320
rs1362103320
GBA
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
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: rs75564605
rs75564605
GBA
1.000 0.120 1 155235747 missense variant A/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 20 1990 2006
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
dbSNP: rs75243000
rs75243000
GBA
1.000 0.120 1 155235762 missense variant A/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs1553216985
rs1553216985
GBA
1.000 0.120 1 155235721 missense variant A/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 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: rs121908302
rs121908302
GBA
1.000 0.120 1 155240033 missense variant C/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908304
rs121908304
GBA
1.000 0.120 1 155236416 missense variant C/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
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: rs78911246
rs78911246
GBA
1.000 0.120 1 155238212 missense variant C/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs878853321
rs878853321
GBA
0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 11 1996 2014
dbSNP: rs398123528
rs398123528
GBA
1.000 0.120 1 155235829 missense variant C/A;G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
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: rs121908307
rs121908307
GBA
1.000 0.120 1 155236261 missense variant C/G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908312
rs121908312
GBA
0.925 0.120 1 155239716 missense variant C/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
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