Gene: PSEN1 ×
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 0.050 1.000 5 1997 2016
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.040 0.500 4 2000 2013
dbSNP: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.030 1.000 3 2008 2020
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.030 1.000 3 1997 2008
dbSNP: rs63749835
rs63749835
PSEN1
5 0.851 0.080 14 73192799 missense variant T/C snv 0.020 1.000 2 2003 2017
dbSNP: rs63750522
rs63750522
PSEN1
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.020 1.000 2 2010 2018
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.020 1.000 2 2007 2013
dbSNP: rs63750730
rs63750730
PSEN1
6 0.827 0.120 14 73173574 missense variant C/T snv 0.020 1.000 2 2004 2015
dbSNP: rs63751019
rs63751019
PSEN1
3 0.925 0.080 14 73198066 missense variant C/G snv 0.020 1.000 2 1996 2004
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 1.000 2 1998 2003
dbSNP: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1179768627
rs1179768627
PSEN1
2 0.925 0.080 14 73198064 missense variant T/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121917808
rs121917808
PSEN1
3 0.882 0.080 14 73219192 missense variant C/A snv 0.010 1.000 1 1998 1998
dbSNP: rs200576075
rs200576075
PSEN1
2 0.925 0.080 14 73171031 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
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: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.010 1.000 1 2010 2010
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: 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: 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