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: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2011 2019
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 0.500 2 1998 2004
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.020 1.000 2 1997 2015
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.020 1.000 2 1996 1997
dbSNP: rs1038162399
rs1038162399
APP
2 0.925 0.080 21 25911954 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1200601649
rs1200601649
APP
2 0.925 0.080 21 26022022 missense variant A/C snv 0.010 1.000 1 2002 2002
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 1997 1997
dbSNP: rs1302192564
rs1302192564
APP
2 0.925 0.080 21 26000164 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1315025573
rs1315025573
APP
2 0.925 0.080 21 25891849 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1341026713
rs1341026713
APP
3 0.925 0.080 21 25955719 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1451944248
rs1451944248
APP
2 0.925 0.080 21 25975964 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs201085152
rs201085152
APP
3 0.925 0.080 21 25975072 missense variant G/A;T snv 1.6E-05; 3.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs201093867
rs201093867
APP
2 0.925 0.080 21 26021995 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs375869205
rs375869205
PAM
1 1.000 0.080 5 103003097 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs571825723
rs571825723
PSEN1
4 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs61761208
rs61761208
PSEN2
3 0.882 0.080 1 226885602 missense variant A/T snv 0.010 1.000 1 2014 2014
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs63749885
rs63749885
PSEN1
3 0.882 0.080 14 73186859 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998