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: rs63749824
rs63749824
PSEN1
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs372702043
rs372702043
APP
2 0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs779407819
rs779407819
APP
1 1.000 0.080 21 26021899 missense variant G/A snv 1.6E-05 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2013 2013
dbSNP: rs63750301
rs63750301
PSEN1
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs63751032
rs63751032
PSEN1
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs63750847
rs63750847
APP
8 0.790 0.120 21 25897620 missense variant C/T snv 4.5E-04 3.0E-04 0.020 1.000 2 2014 2016
dbSNP: rs1302192564
rs1302192564
APP
2 0.925 0.080 21 26000164 missense variant G/A snv 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: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.020 1.000 2 2015 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: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
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: 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: rs1490931437
rs1490931437
TP53
2 0.925 0.120 17 7673260 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs63750730
rs63750730
PSEN1
6 0.827 0.120 14 73173574 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs866914724
rs866914724
PSEN1
3 0.882 0.080 14 73173685 missense variant T/C snv 0.010 1.000 1 2016 2016
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: 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