Gene: PSEN1 ×
Source: BEFREE ×
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: rs63750391
rs63750391
PSEN1
2 0.882 0.160 14 73173665 missense variant G/A;C;T snv 0.020 1.000 2 1996 2016
dbSNP: rs63750590
rs63750590
PSEN1
6 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs63750231
rs63750231
PSEN1
18 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 0.955 22 1997 2020
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.060 1.000 6 1997 2010
dbSNP: rs63750353
rs63750353
PSEN1
1 0.925 0.080 14 73173630 missense variant A/G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.090 1.000 9 1998 2019
dbSNP: rs63749805
rs63749805
PSEN1
5 0.807 0.120 14 73173577 missense variant C/G;T snv 0.020 1.000 2 1998 2018
dbSNP: rs63751163
rs63751163
PSEN1
6 0.807 0.120 14 73192844 missense variant T/C snv 0.020 1.000 2 1998 2000
dbSNP: rs63749885
rs63749885
PSEN1
2 0.882 0.080 14 73186859 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs63750050
rs63750050
PSEN1
4 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs63750004
rs63750004
PSEN1
3 0.851 0.080 14 73173655 missense variant T/A;C snv 0.030 1.000 3 1999 2010
dbSNP: rs63750646
rs63750646
PSEN1
5 0.807 0.120 14 73217147 missense variant G/C snv 0.020 1.000 2 1999 1999
dbSNP: rs63750526
rs63750526
PSEN1
6 0.776 0.160 14 73192832 missense variant C/A snv 0.070 1.000 7 2000 2014
dbSNP: rs63750311
rs63750311
PSEN1
7 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63751141
rs63751141
PSEN1
2 0.882 0.080 14 73170984 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63751254
rs63751254
PSEN1
3 0.851 0.160 14 73217210 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs63750306
rs63750306
PSEN1
16 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.100 1.000 10 2001 2017
dbSNP: rs63750082
rs63750082
PSEN1
9 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.030 1.000 3 2001 2019
dbSNP: rs63750265
rs63750265
PSEN1
2 0.882 0.080 14 73186869 missense variant T/A;C;G snv 0.040 1.000 4 2002 2016
dbSNP: rs63750301
rs63750301
PSEN1
3 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.040 1.000 4 2002 2014
dbSNP: rs63750083
rs63750083
PSEN1
9 0.732 0.160 14 73219177 missense variant C/A;T snv 0.030 1.000 3 2002 2019
dbSNP: rs63750815
rs63750815
PSEN1
2 0.882 0.080 14 73170974 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs63750886
rs63750886
PSEN1
2 0.851 0.080 14 73198072 missense variant C/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63751037
rs63751037
PSEN1
6 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63751071
rs63751071
PSEN1
1 1.000 0.080 14 73173656 missense variant T/G snv 0.010 1.000 1 2004 2004