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: 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: rs1141814
rs1141814
GBA
0.925 0.120 1 155239934 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 2 2008 2009
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: rs74598136
rs74598136
GBA
0.925 0.120 1 155235750 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 2 2008 2009
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: 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: 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: rs1553217294
rs1553217294
GBA
0.925 0.120 1 155236417 missense variant C/G 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: rs75528494
rs75528494
GBA
1.000 0.120 1 155236254 missense variant G/C;T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs76071730
rs76071730
GBA
1.000 0.120 1 155235231 missense variant T/C;G snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs765633380
rs765633380
GBA
1.000 0.120 1 155237370 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
dbSNP: rs80205046
rs80205046
GBA
0.925 0.120 1 155238233 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 1.000 9 1996 2014
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: 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: rs121908297
rs121908297
GBA
1.000 0.120 1 155238519 missense variant T/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908298
rs121908298
GBA
1.000 0.120 1 155237357 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
dbSNP: rs121908299
rs121908299
GBA
1.000 0.120 1 155238624 missense variant G/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 2009
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: rs121908301
rs121908301
GBA
1.000 0.120 1 155235057 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 1.000 22 1990 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: 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: 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