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: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 < 0.001 2 1997 2019
dbSNP: rs63751309
rs63751309
PSEN1
3 0.882 0.080 14 73192733 missense variant T/C snv 0.020 1.000 2 1996 2008
dbSNP: rs762508225
rs762508225
APP
2 0.925 0.080 21 26000044 missense variant T/G snv 4.0E-06 0.020 1.000 2 1996 2008
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: rs1179768627
rs1179768627
PSEN1
2 0.925 0.080 14 73198064 missense variant T/G snv 4.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1215971988
rs1215971988
PSEN2
1 1.000 0.080 1 226885618 missense variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 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: rs1220355764
rs1220355764
APP
2 0.925 0.080 21 26022037 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1281129992
rs1281129992
APP
3 0.882 0.080 21 25891730 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1302192564
rs1302192564
APP
2 0.925 0.080 21 26000164 missense variant G/A snv 0.010 1.000 1 2014 2014
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: rs1347585131
rs1347585131
APP
1 1.000 0.080 21 26021974 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2019 2019
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
dbSNP: rs139155954
rs139155954
SORBS2
1 1.000 0.080 4 185662115 missense variant C/G;T snv 6.0E-05 0.010 1.000 1 2015 2015
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: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1451944248
rs1451944248
APP
2 0.925 0.080 21 25975964 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1459435816
rs1459435816
APP
1 1.000 0.080 21 26053249 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs1482790603
rs1482790603
PSEN2
1 1.000 0.080 1 226891284 missense variant T/C snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2019 2019
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: rs199887707
rs199887707
APP
3 0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04 0.010 < 0.001 1 2019 2019