Source: ALL
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: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2005 2019
dbSNP: rs1394871591
rs1394871591
ABCA1
5 0.827 0.200 9 104903619 missense variant G/C snv 4.8E-06 0.010 1.000 1 2005 2005
dbSNP: rs74315413
rs74315413
PRNP
8 0.807 0.160 20 4699780 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs34637584
rs34637584
LRRK2
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 0.500 2 2006 2012
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 2006 2008
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1233347077
rs1233347077
APOE
4 0.851 0.160 19 44905894 missense variant G/C snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs137852642
rs137852642
NOTCH3
9 0.827 0.200 19 15192242 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750324
rs63750324
PSEN1
2 0.925 0.080 14 73198111 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs63749824
rs63749824
PSEN1
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.020 1.000 2 2007 2016
dbSNP: rs6688832
rs6688832
H6PD
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.010 1.000 1 2007 2007
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2008 2012
dbSNP: rs1043202
rs1043202
SMUG1
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs142690225
rs142690225
PSEN2
3 0.925 0.080 1 226894111 missense variant G/A snv 1.1E-04 1.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs533667466
rs533667466
APP
3 0.925 0.080 21 25911912 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs80356715
rs80356715
TARDBP
6 0.807 0.120 1 11016874 missense variant C/G;T snv 8.0E-06; 2.2E-04 0.010 1.000 1 2008 2008
dbSNP: rs121918100
rs121918100
TTR
11 0.827 0.160 18 31595184 missense variant T/C snv 0.020 1.000 2 2009 2015
dbSNP: rs17070145
rs17070145
WWC1
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 < 0.001 1 2009 2009
dbSNP: rs1997794
rs1997794
PDYN ; PDYN-AS1
4 0.851 0.120 20 1994212 5 prime UTR variant T/C snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs2235751
rs2235751
PDYN ; PDYN-AS1
3 0.882 0.120 20 1989288 intron variant A/G snv 0.40 0.010 1.000 1 2009 2009
dbSNP: rs910080
rs910080
PDYN ; PDYN-AS1
4 0.851 0.120 20 1979580 3 prime UTR variant A/G snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs5882
rs5882
CETP
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.030 1.000 3 2010 2017
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2010 2011