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: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1312532981
rs1312532981
PSEN1
1 1.000 0.080 14 73170846 missense variant A/G snv 0.010 1.000 1 2016 2016
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: 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: rs1566630910
rs1566630910
PSEN1
1 1.000 0.080 14 73173651 missense variant G/A snv 0.700 0
dbSNP: rs1566638673
rs1566638673
PSEN1
1 1.000 0.080 14 73186881 inframe insertion -/TAT delins 0.700 0
dbSNP: rs1566656702
rs1566656702
PSEN1
1 1.000 0.080 14 73217173 missense variant G/T snv 0.700 0
dbSNP: rs1566657804
rs1566657804
PSEN1
1 1.000 0.080 14 73219182 missense variant C/T snv 0.700 0
dbSNP: rs165932
rs165932
PSEN1
2 0.925 0.080 14 73198145 intron variant G/A;T snv 0.61 0.010 1.000 1 2007 2007
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: 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
dbSNP: rs200576075
rs200576075
PSEN1
2 0.925 0.080 14 73171031 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs3025786
rs3025786
PSEN1
1 1.000 0.080 14 73198010 non coding transcript exon variant T/C snv 3.5E-02 3.6E-02 0.010 1.000 1 2008 2008
dbSNP: rs41345849
rs41345849
PSEN1
1 1.000 0.080 14 73173634 missense variant C/G snv 0.010 1.000 1 2008 2008
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: 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: rs63749885
rs63749885
PSEN1
3 0.882 0.080 14 73186859 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs63749925
rs63749925
PSEN1
3 0.882 0.080 14 73219191 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs63749961
rs63749961
PSEN1
3 0.925 0.080 14 73192772 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750004
rs63750004
PSEN1
4 0.851 0.080 14 73173655 missense variant T/A;C snv 0.030 1.000 3 1999 2010
dbSNP: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.700 0
dbSNP: rs63750050
rs63750050
PSEN1
5 0.925 0.080 14 73198106 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.030 1.000 3 2001 2019
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.030 1.000 3 2002 2019