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: 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: 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: rs104893937
rs104893937
4 0.851 0.120 5 176621218 missense variant G/T snv 1.7E-04 2.0E-04 0.730 1.000 3 2004 2009
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.710 1.000 1 2014 2014
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 3 2014 2019
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: rs35749011
rs35749011
2 0.925 0.080 1 155162560 intergenic variant G/A snv 1.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs7681440
rs7681440
1 1.000 0.080 4 89835399 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs897984
rs897984
2 0.925 0.080 16 30875322 non coding transcript exon variant T/C snv 0.62 0.47 0.700 1.000 1 2018 2018
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: 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: 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
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: rs80356771
rs80356771
GBA
8 0.776 0.160 1 155235196 missense variant G/A;T snv 7.2E-05; 4.0E-06 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: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.030 0.667 3 2006 2016
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: rs143624519
rs143624519
17 0.724 0.240 17 45991484 missense variant G/A;T snv 1.5E-03; 1.2E-05 0.020 1.000 2 2015 2019
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: 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: rs112176450
rs112176450
7 0.807 0.080 3 184327401 missense variant G/A;T snv 2.1E-04 2.8E-04 0.010 1.000 1 2011 2011
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: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014