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 0.100 1.000 14 1996 2019
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: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 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: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.070 1.000 7 1994 2016
dbSNP: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.060 1.000 6 1992 2007
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: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2018
dbSNP: rs63749884
rs63749884
PSEN2
5 0.851 0.160 1 226888979 missense variant G/A snv 0.040 1.000 4 2000 2012
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: 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: rs63751309
rs63751309
PSEN1
3 0.882 0.080 14 73192733 missense variant T/C snv 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: 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: 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: rs1302192564
rs1302192564
APP
2 0.925 0.080 21 26000164 missense variant G/A snv 0.010 1.000 1 2014 2014
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: rs1451944248
rs1451944248
APP
2 0.925 0.080 21 25975964 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1490931437
rs1490931437
TP53
2 0.925 0.120 17 7673260 missense variant G/A snv 0.010 1.000 1 2016 2016
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: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs63749880
rs63749880
PSEN1
2 0.925 0.080 14 73192720 missense variant G/A snv 0.010 1.000 1 1999 1999