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: rs1057519357
rs1057519357
GBA
1 1.000 0.120 1 155235792 missense variant G/A snv 0.700 1.000 20 1990 2006
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: rs1141811
rs1141811
GBA
1 1.000 0.120 1 155239948 missense variant G/A snv 4.0E-06 0.700 0
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: rs1161552095
rs1161552095
GBA
1 0.925 0.120 1 155236307 missense variant C/T snv 4.0E-06 1.4E-05 0.700 1.000 20 1990 2006
dbSNP: rs1178732315
rs1178732315
GBA
1 0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 0.700 0
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: rs121908308
rs121908308
GBA
1 0.925 0.120 1 155236295 missense variant G/A;C snv 8.0E-06 0.700 1.000 20 1990 2006
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
dbSNP: rs121908314
rs121908314
GBA
1 1.000 0.120 1 155235841 missense variant G/C snv 0.810 1.000 22 1990 2009
dbSNP: rs1296507371
rs1296507371
GBA
1 0.925 0.120 1 155237433 missense variant G/T snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1362103320
rs1362103320
GBA
1 1.000 0.120 1 155235201 missense variant A/G snv 4.0E-06 0.700 1.000 20 1990 2006
dbSNP: rs1376479747
rs1376479747
GBA
1 1.000 0.120 1 155238200 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs1392291885
rs1392291885
GBA
1 1.000 0.120 1 155236255 missense variant C/T snv 2.1E-05 0.700 1.000 20 1990 2006
dbSNP: rs1441909908
rs1441909908
GBA
1 1.000 0.120 1 155238588 missense variant T/G snv 4.0E-06 0.700 1.000 20 1990 2006
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: rs147138516
rs147138516
GBA
1 0.925 0.120 1 155238570 missense variant C/G;T snv 1.4E-04; 4.0E-06 0.700 0