Source: CURATED ×
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: rs439898
rs439898
GBA
2 0.882 0.120 1 155238630 missense variant G/A snv 2.8E-05 0.700 0
dbSNP: rs77369218
rs77369218
GBA
3 0.807 0.160 1 155235726 missense variant T/A snv 0.700 0
dbSNP: rs79653797
rs79653797
GBA
4 0.851 0.120 1 155238629 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs80356760
rs80356760
GBA
1 1.000 0.120 1 155240651 frameshift variant -/C ins 0.700 0
dbSNP: rs80356763
rs80356763
GBA
3 0.882 0.120 1 155238596 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs1064644
rs1064644
GBA
6 0.807 0.120 1 155238192 missense variant A/G snv 8.0E-06 0.700 1.000 2 2000 2000
dbSNP: rs387906315
rs387906315
GBA
5 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.700 1.000 2 1991 2000
dbSNP: rs1553217314
rs1553217314
GBA
1 1.000 0.120 1 155236440 frameshift variant A/- del 0.700 1.000 1 2000 2000
dbSNP: rs409652
rs409652
GBA
5 0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05 0.710 1.000 2 1997 2003
dbSNP: rs398123532
rs398123532
GBA
5 0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05 0.700 1.000 3 2000 2006
dbSNP: rs773409311
rs773409311
GBA
2 0.925 0.120 1 155238186 missense variant T/C snv 8.0E-06 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs1553217009
rs1553217009
GBA
3 0.882 0.120 1 155235757 missense variant C/T snv 0.700 1.000 2 2005 2006
dbSNP: rs79796061
rs79796061
GBA
2 0.925 0.120 1 155238608 missense variant T/A snv 8.0E-06 2.8E-05 0.700 1.000 2 2006 2006
dbSNP: rs149171124
rs149171124
GBA
1 1.000 0.120 1 155235790 stop gained C/A;T snv 1.7E-04 0.700 1.000 1 2006 2006
dbSNP: rs1141814
rs1141814
GBA
2 0.925 0.120 1 155239934 missense variant G/A snv 2.8E-05 1.4E-05 0.700 1.000 4 1997 2007
dbSNP: rs80356771
rs80356771
GBA
8 0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 0.710 1.000 3 1994 2007
dbSNP: rs749714463
rs749714463
GBA
1 1.000 0.120 1 155238299 frameshift variant AG/- del 0.700 1.000 4 2005 2008
dbSNP: rs754743440
rs754743440
GBA
1 1.000 0.120 1 155235819 stop gained C/T snv 4.0E-06 0.700 1.000 2 2006 2008
dbSNP: rs75822236
rs75822236
GBA
9 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.710 1.000 2 1993 2008
dbSNP: rs381737
rs381737
GBA
4 0.851 0.120 1 155238141 missense variant A/C;T snv 4.0E-06; 4.4E-05 0.710 1.000 0 2008 2008
dbSNP: rs1557901325
rs1557901325
GBA
1 1.000 0.120 1 155235712 stop gained G/A snv 0.700 1.000 4 1995 2011
dbSNP: rs121908311
rs121908311
GBA
5 0.827 0.120 1 155235823 missense variant C/T snv 1.6E-05 7.0E-06 0.700 1.000 2 2000 2011
dbSNP: rs80356772
rs80356772
GBA
5 0.790 0.160 1 155235195 missense variant C/T snv 8.0E-06 7.0E-06 0.710 1.000 0 2011 2011
dbSNP: rs104886460
rs104886460
GBA
8 0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 1.000 2 1992 2012
dbSNP: rs1553217879
rs1553217879
GBA
1 1.000 0.120 1 155238265 frameshift variant G/- delins 0.700 1.000 2 2011 2012