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: rs777296100
rs777296100
2 0.925 0.080 4 89725318 3 prime UTR variant -/TAA;TAAAA ins 0.010 1.000 1 2017 2017
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs2306604
rs2306604
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs12734374
rs12734374
2 1.000 0.080 1 155419060 intron variant A/T snv 3.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1446915570
rs1446915570
2 0.925 0.080 14 73173623 synonymous variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs80356769
rs80356769
GBA
8 0.776 0.160 1 155235772 missense variant C/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs7308720
rs7308720
7 0.790 0.120 12 40263898 missense variant C/A;G snv 4.0E-06; 8.7E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs7681440
rs7681440
1 1.000 0.080 4 89835399 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs104886460
rs104886460
GBA
8 0.776 0.160 1 155240629 splice donor variant C/A;T snv 7.6E-05 0.700 0
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.030 1.000 3 2000 2004
dbSNP: rs1064651
rs1064651
GBA
13 0.732 0.360 1 155235727 missense variant C/G snv 1.3E-04 2.0E-04 0.700 0
dbSNP: rs104893936
rs104893936
4 0.851 0.120 5 176626472 missense variant C/G;T snv 5.6E-05 0.730 1.000 3 2004 2009
dbSNP: rs72824905
rs72824905
6 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 0.020 1.000 2 2018 2019
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.860 1.000 6 2004 2019
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.760 1.000 6 1998 2010
dbSNP: rs1342971994
rs1342971994
1 1.000 0.080 4 89822344 missense variant C/T snv 1.4E-05 0.020 1.000 2 2004 2009
dbSNP: rs1041833271
rs1041833271
APP
2 0.925 0.080 21 25975995 missense variant C/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs113388242
rs113388242
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs377591051
rs377591051
4 0.851 0.080 6 162262651 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2006 2006
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs75822236
rs75822236
GBA
10 0.752 0.200 1 155235002 missense variant C/T snv 1.8E-04 6.1E-05 0.700 0
dbSNP: rs78973108
rs78973108
GBA
8 0.776 0.160 1 155237453 missense variant C/T snv 2.8E-05 4.2E-05 0.700 0