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: 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: 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: rs1064651
rs1064651
GBA
8 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.760 1.000 1 1995 2019
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: rs11986414
rs11986414
CLN8
1 1.000 0.120 8 1798784 intron variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs121908309
rs121908309
GBA
2 0.925 0.120 1 155236277 stop gained G/A snv 4.0E-06 0.700 1.000 4 1994 2016
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: rs1237637353
rs1237637353
GBA
2 0.925 0.120 1 155237579 splice acceptor variant C/G snv 4.0E-06 0.700 1.000 3 2007 2018
dbSNP: rs147138516
rs147138516
GBA
2 0.925 0.120 1 155238570 missense variant C/G;T snv 1.4E-04; 4.0E-06 0.700 1.000 7 1991 2016
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: rs1553217009
rs1553217009
GBA
3 0.882 0.120 1 155235757 missense variant C/T snv 0.700 1.000 2 2005 2006
dbSNP: rs1553217294
rs1553217294
GBA
2 0.925 0.120 1 155236417 missense variant C/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1553217314
rs1553217314
GBA
1 1.000 0.120 1 155236440 frameshift variant A/- del 0.700 1.000 1 2000 2000
dbSNP: rs1553217879
rs1553217879
GBA
1 1.000 0.120 1 155238265 frameshift variant G/- delins 0.700 1.000 2 2011 2012
dbSNP: rs1557901325
rs1557901325
GBA
1 1.000 0.120 1 155235712 stop gained G/A snv 0.700 1.000 4 1995 2011
dbSNP: rs364897
rs364897
GBA
5 0.807 0.120 1 155238215 missense variant T/C snv 7.2E-05 1.0E-04 0.710 1.000 7 2004 2019
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: 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: rs398123527
rs398123527
GBA
5 0.827 0.120 1 155236298 missense variant C/G snv 0.700 1.000 3 1997 2018
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: 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: rs421016
rs421016
GBA
15 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.800 1.000 6 1991 2019
dbSNP: rs439898
rs439898
GBA
2 0.882 0.120 1 155238630 missense variant G/A snv 2.8E-05 0.700 0
dbSNP: rs61748906
rs61748906
GBA
4 0.851 0.120 1 155238228 missense variant A/G snv 8.0E-06 2.8E-05 0.700 1.000 4 2000 2015
dbSNP: rs749714463
rs749714463
GBA
1 1.000 0.120 1 155238299 frameshift variant AG/- del 0.700 1.000 4 2005 2008