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: rs1566638673
rs1566638673
PSEN1
1 1.000 0.080 14 73186881 inframe insertion -/TAT delins 0.700 0
dbSNP: rs1362575880
rs1362575880
PSEN1
4 0.851 0.120 14 73192840 missense variant A/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63750888
rs63750888
PSEN1
2 0.925 0.080 14 73192828 missense variant A/C snv 0.010 1.000 1 2006 2006
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: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.700 0
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: 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: rs1312532981
rs1312532981
PSEN1
1 1.000 0.080 14 73170846 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63751254
rs63751254
PSEN1
4 0.851 0.160 14 73217210 missense variant A/G 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: rs63751287
rs63751287
PSEN1
13 0.742 0.120 14 73192792 missense variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1446915570
rs1446915570
PSEN1
2 0.925 0.080 14 73173623 synonymous variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
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: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.070 1.000 7 2000 2014
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: rs41345849
rs41345849
PSEN1
1 1.000 0.080 14 73173634 missense variant C/G snv 0.010 1.000 1 2008 2008
dbSNP: rs63750886
rs63750886
PSEN1
5 0.851 0.080 14 73198072 missense variant C/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63749824
rs63749824
PSEN1
8 0.776 0.120 14 73170945 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.030 1.000 3 2016 2016
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: rs63750301
rs63750301
PSEN1
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.040 1.000 4 2002 2014
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.020 1.000 2 2005 2007
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