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 0.100 0.955 22 1997 2020
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.100 1.000 10 2001 2017
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.070 1.000 7 2000 2014
dbSNP: rs63750265
rs63750265
PSEN1
3 0.882 0.080 14 73186869 missense variant T/A;C;G snv 0.040 1.000 4 2002 2016
dbSNP: rs63750004
rs63750004
PSEN1
4 0.851 0.080 14 73173655 missense variant T/A;C snv 0.030 1.000 3 1999 2010
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.030 1.000 3 2002 2019
dbSNP: rs63749805
rs63749805
PSEN1
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.020 1.000 2 1998 2018
dbSNP: rs63750391
rs63750391
PSEN1
3 0.882 0.160 14 73173665 missense variant G/A;C;T snv 0.020 1.000 2 1996 2016
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.020 1.000 2 2005 2007
dbSNP: rs63750646
rs63750646
PSEN1
6 0.807 0.120 14 73217147 missense variant G/C snv 0.020 1.000 2 1999 1999
dbSNP: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.020 0.500 2 2008 2020
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 1998 2000
dbSNP: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1312532981
rs1312532981
PSEN1
1 1.000 0.080 14 73170846 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs1800839
rs1800839
PSEN1
1 1.000 0.080 14 73136423 5 prime UTR variant C/T snv 5.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs200576075
rs200576075
PSEN1
2 0.925 0.080 14 73171031 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs41345849
rs41345849
PSEN1
1 1.000 0.080 14 73173634 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs63749885
rs63749885
PSEN1
3 0.882 0.080 14 73186859 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs63749925
rs63749925
PSEN1
3 0.882 0.080 14 73219191 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs63749961
rs63749961
PSEN1
3 0.925 0.080 14 73192772 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750050
rs63750050
PSEN1
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63750353
rs63750353
PSEN1
2 0.925 0.080 14 73173630 missense variant A/G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs63750444
rs63750444
PSEN1
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2019 2019