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: rs77714449
rs77714449
GBA
1 1.000 0.120 1 155236444 missense variant T/A snv 0.700 0
dbSNP: rs77933015
rs77933015
GBA
1 1.000 0.120 1 155238296 missense variant A/C;T snv 0.700 0
dbSNP: rs78657146
rs78657146
GBA
1 1.000 0.120 1 155238587 missense variant G/A snv 0.700 0
dbSNP: rs78769774
rs78769774
GBA
1 0.925 0.120 1 155239933 missense variant C/T snv 0.700 0
dbSNP: rs78911246
rs78911246
GBA
1 1.000 0.120 1 155238212 missense variant C/A snv 0.700 0
dbSNP: rs79215220
rs79215220
GBA
1 1.000 0.120 1 155237426 missense variant G/C snv 0.700 0
dbSNP: rs79637617
rs79637617
GBA
1 1.000 0.120 1 155238623 missense variant G/A snv 0.700 0
dbSNP: rs79660787
rs79660787
GBA
1 1.000 0.120 1 155238581 missense variant G/T snv 0.700 0
dbSNP: rs80116658
rs80116658
GBA
1 1.000 0.120 1 155237429 missense variant C/T snv 0.700 0
dbSNP: rs80222298
rs80222298
GBA
1 1.000 0.120 1 155238302 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs866075757
rs866075757
GBA
1 1.000 0.120 1 155238234 missense variant G/A;T snv 0.700 0
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: 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: 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: rs1141814
rs1141814
GBA
1 0.925 0.120 1 155239934 missense variant G/A snv 2.8E-05 1.4E-05 0.800 1.000 2 2008 2009
dbSNP: rs74500255
rs74500255
GBA
1 0.851 0.120 1 155237576 missense variant A/T snv 1.6E-05 1.4E-05 0.800 1.000 2 2008 2009
dbSNP: rs74598136
rs74598136
GBA
1 0.925 0.120 1 155235750 missense variant G/A snv 0.800 1.000 2 2008 2009
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: rs1553217009
rs1553217009
GBA
2 0.882 0.120 1 155235757 missense variant C/T snv 0.700 1.000 9 1996 2014
dbSNP: rs1553217294
rs1553217294
GBA
1 0.925 0.120 1 155236417 missense variant C/G snv 0.700 1.000 9 1996 2014
dbSNP: rs367968666
rs367968666
GBA
2 0.882 0.120 1 155237458 missense variant A/C snv 2.4E-04 1.6E-04 0.700 1.000 9 1996 2014
dbSNP: rs75528494
rs75528494
GBA
1 1.000 0.120 1 155236254 missense variant G/C;T snv 0.700 1.000 9 1996 2014
dbSNP: rs76071730
rs76071730
GBA
1 1.000 0.120 1 155235231 missense variant T/C;G snv 1.2E-05 0.700 1.000 9 1996 2014
dbSNP: rs765633380
rs765633380
GBA
1 1.000 0.120 1 155237370 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 9 1996 2014
dbSNP: rs80205046
rs80205046
GBA
1 0.925 0.120 1 155238233 missense variant G/A snv 0.700 1.000 9 1996 2014