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: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.060 1.000 6 1992 2007
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 1.000 14 1996 2019
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.090 1.000 9 1997 2013
dbSNP: rs1712572
rs1712572
LINC00882
1 1.000 0.080 3 106898231 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2017 2017
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 2006 2006
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.050 1.000 5 2000 2017
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.020 1.000 2 1996 2007
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 < 0.001 2 1997 2019
dbSNP: rs1015909000
rs1015909000
NFIB
1 1.000 0.080 9 14146790 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs115865530
rs115865530
PSEN1
2 0.925 0.080 14 73206449 missense variant A/G snv 1.4E-04 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1393704451
rs1393704451
RANBP2 ; SH3RF3 ; SH3RF3-AS1
1 1.000 0.080 2 109129746 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2018
dbSNP: rs779296437
rs779296437
PSEN1
2 0.925 0.080 14 73192699 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 2019
dbSNP: rs121917808
rs121917808
PSEN1
3 0.882 0.080 14 73219192 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.100 0.909 11 1991 2019
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.060 1.000 6 1995 2016
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: rs63750363
rs63750363
APP
1 1.000 0.080 21 25897642 missense variant C/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs63751235
rs63751235
PSEN1
6 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2000 2000
dbSNP: rs773029808
rs773029808
SORBS2
1 1.000 0.080 4 185626897 missense variant C/G snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs63749805
rs63749805
PSEN1
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.050 1.000 5 1998 2018
dbSNP: rs1307925400
rs1307925400
APP
1 1.000 0.080 21 26112001 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1348800465
rs1348800465
MAPT
1 1.000 0.080 17 45991491 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016