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: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs63751032
rs63751032
PSEN1
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs63749824
rs63749824
PSEN1
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs63750522
rs63750522
PSEN1
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750852
rs63750852
PSEN1
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750900
rs63750900
PSEN1
9 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 2019
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.020 1.000 2 1996 2007
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 2015 2015
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: 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: 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