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: rs374263073
rs374263073
LAMC2
3 0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 8 1997 2016
dbSNP: rs533813519
rs533813519
PSEN2
5 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs543578531
rs543578531
GRN
1 1.000 0.080 17 44349703 missense variant C/A;T snv 2.3E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs63749835
rs63749835
PSEN1
5 0.851 0.080 14 73192799 missense variant T/C snv 0.020 1.000 2 2003 2017
dbSNP: rs63749891
rs63749891
PSEN1
5 0.851 0.080 14 73198094 missense variant G/C;T snv 0.010 1.000 1 1997 1997
dbSNP: rs63749925
rs63749925
PSEN1
3 0.882 0.080 14 73219191 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs63749937
rs63749937
PSEN1
2 0.925 0.080 14 73198105 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs63749961
rs63749961
PSEN1
3 0.925 0.080 14 73192772 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.700 1.000 10 1992 2018
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 2008 2008
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: rs63750110
rs63750110
PSEN2
1 1.000 0.080 1 226895548 missense variant A/C snv 3.6E-05 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2010
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.050 1.000 5 1997 2016
dbSNP: rs63750248
rs63750248
PSEN1
2 0.925 0.080 14 73198047 missense variant G/A;C;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 1997 1997
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.080 1.000 8 1996 2019
dbSNP: rs63750265
rs63750265
PSEN1
3 0.882 0.080 14 73186869 missense variant T/A;C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750322
rs63750322
PSEN1
2 0.925 0.080 14 73173654 missense variant A/G;T snv 0.010 1.000 1 1999 1999