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: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs63751235
rs63751235
PSEN1
6 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2000 2000
dbSNP: rs63751420
rs63751420
PSEN1
2 0.925 0.080 14 73198040 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs63751441
rs63751441
PSEN1
3 0.882 0.080 14 73173684 missense variant C/G;T snv 5.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs661
rs661
PSEN1
6 0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs779296437
rs779296437
PSEN1
2 0.925 0.080 14 73192699 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs866914724
rs866914724
PSEN1
3 0.882 0.080 14 73173685 missense variant T/C snv 0.010 1.000 1 2016 2016
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: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2005 2006
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.050 1.000 5 2000 2017
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: 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: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 1.000 14 1996 2019
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 2019