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: 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: rs63751141
rs63751141
PSEN1
3 0.882 0.080 14 73170984 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63750601
rs63750601
PSEN1
3 0.882 0.080 14 73170995 missense variant G/T snv 0.010 1.000 1 1996 1996
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: rs63750730
rs63750730
PSEN1
6 0.827 0.120 14 73173574 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 < 0.001 2 1997 2019
dbSNP: rs63751106
rs63751106
PSEN1
5 0.827 0.080 14 73173643 missense variant T/A;C snv 0.010 1.000 1 2001 2001
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: 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: 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: rs63750907
rs63750907
PSEN1
6 0.807 0.120 14 73173667 missense variant C/T snv 0.010 < 0.001 1 2019 2019
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: rs866914724
rs866914724
PSEN1
3 0.882 0.080 14 73173685 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs201617677
rs201617677
PSEN1
1 1.000 0.080 14 73173698 missense variant G/A;T snv 6.4E-05 0.010 < 0.001 1 2019 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: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750299
rs63750299
PSEN1
2 0.925 0.080 14 73186890 missense variant T/G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
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: 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: rs63749880
rs63749880
PSEN1
2 0.925 0.080 14 73192720 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs63751309
rs63751309
PSEN1
3 0.882 0.080 14 73192733 missense variant T/C snv 0.020 1.000 2 1996 2008