Gene: GBA ×
Source: UNIPROT ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs76763715
rs76763715
GBA
1 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.850 1.000 2 1988 2018
dbSNP: rs421016
rs421016
GBA
2 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.850 1.000 0 2011 2019
dbSNP: rs1064651
rs1064651
GBA
2 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.800 1.000 2 1990 2010
dbSNP: rs1178732315
rs1178732315
GBA
1 0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs368060
rs368060
GBA
1 0.882 0.200 1 155235217 missense variant C/G snv 1.4E-04 7.7E-04 0.700 1.000 20 1990 2006
dbSNP: rs75822236
rs75822236
GBA
1 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.810 1.000 2 1993 2017
dbSNP: rs2230288
rs2230288
GBA
1 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 1.000 31 1990 2014
dbSNP: rs80356769
rs80356769
GBA
1 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.800 1.000 22 1989 2011
dbSNP: rs1450426641
rs1450426641
GBA
1 0.851 0.160 1 155235820 missense variant A/C snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs75548401
rs75548401
GBA
1 0.882 0.160 1 155236246 missense variant G/A snv 5.9E-03 6.2E-03 0.700 1.000 20 1990 2006
dbSNP: rs77369218
rs77369218
GBA
1 0.807 0.160 1 155235726 missense variant T/A snv 0.800 1.000 20 1990 2006
dbSNP: rs80356771
rs80356771
GBA
1 0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 0.800 1.000 20 1990 2014
dbSNP: rs878853321
rs878853321
GBA
1 0.925 0.160 1 155237474 missense variant C/A;G snv 4.0E-06 0.800 1.000 11 1996 2014
dbSNP: rs747506979
rs747506979
GBA
1 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.800 1.000 2 2008 2009
dbSNP: rs77834747
rs77834747
GBA
1 1.000 0.120 1 155238632 missense variant A/C;G snv 7.0E-06 0.700 1.000 29 1990 2014
dbSNP: rs121908297
rs121908297
GBA
1 1.000 0.120 1 155238519 missense variant T/G snv 0.800 1.000 22 1990 2009
dbSNP: rs121908298
rs121908298
GBA
1 1.000 0.120 1 155237357 missense variant G/A snv 0.800 1.000 22 1990 2009
dbSNP: rs121908299
rs121908299
GBA
1 1.000 0.120 1 155238624 missense variant G/A snv 0.800 1.000 22 1990 2009
dbSNP: rs121908300
rs121908300
GBA
1 1.000 0.120 1 155238144 missense variant A/G snv 4.0E-06 0.800 1.000 22 1990 2009
dbSNP: rs121908301
rs121908301
GBA
1 1.000 0.120 1 155235057 missense variant C/T snv 0.800 1.000 22 1990 2009
dbSNP: rs121908302
rs121908302
GBA
1 1.000 0.120 1 155240033 missense variant C/A snv 0.800 1.000 22 1990 2009
dbSNP: rs121908304
rs121908304
GBA
1 1.000 0.120 1 155236416 missense variant C/A snv 0.800 1.000 22 1990 2009
dbSNP: rs121908307
rs121908307
GBA
1 1.000 0.120 1 155236261 missense variant C/G snv 4.0E-06 0.800 1.000 22 1990 2009
dbSNP: rs121908311
rs121908311
GBA
1 0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06 0.800 1.000 22 1990 2009
dbSNP: rs121908312
rs121908312
GBA
1 0.925 0.120 1 155239716 missense variant C/G snv 0.800 1.000 22 1990 2009