Gene: PSEN1 ×
Source: BEFREE ×
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: rs1312532981
rs1312532981
PSEN1
1 1.000 0.080 14 73170846 missense variant A/G snv 0.010 1.000 1 2016 2016
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: 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: rs63750353
rs63750353
PSEN1
1 0.925 0.080 14 73173630 missense variant A/G;T snv 0.010 1.000 1 1997 1997
dbSNP: rs63751071
rs63751071
PSEN1
1 1.000 0.080 14 73173656 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63751223
rs63751223
PSEN1
1 0.807 0.160 14 73219161 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs63750265
rs63750265
PSEN1
2 0.882 0.080 14 73186869 missense variant T/A;C;G snv 0.040 1.000 4 2002 2016
dbSNP: rs63750391
rs63750391
PSEN1
2 0.882 0.160 14 73173665 missense variant G/A;C;T snv 0.020 1.000 2 1996 2016
dbSNP: rs661
rs661
PSEN1
2 0.807 0.120 14 73217225 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2007 2007
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: 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: rs200576075
rs200576075
PSEN1
2 0.925 0.080 14 73171031 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs63749885
rs63749885
PSEN1
2 0.882 0.080 14 73186859 missense variant C/T snv 0.010 1.000 1 1998 1998
dbSNP: rs63749925
rs63749925
PSEN1
2 0.882 0.080 14 73219191 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs63750800
rs63750800
PSEN1
2 0.882 0.080 14 73173585 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs63750815
rs63750815
PSEN1
2 0.882 0.080 14 73170974 missense variant G/T snv 0.010 1.000 1 2002 2002
dbSNP: rs63750886
rs63750886
PSEN1
2 0.851 0.080 14 73198072 missense variant C/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750888
rs63750888
PSEN1
2 0.925 0.080 14 73192828 missense variant A/C snv 0.010 1.000 1 2006 2006
dbSNP: rs63751141
rs63751141
PSEN1
2 0.882 0.080 14 73170984 missense variant G/C snv 0.010 1.000 1 2000 2000
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: rs906454643
rs906454643
PSEN1
2 0.882 0.080 14 73217219 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs63750301
rs63750301
PSEN1
3 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.040 1.000 4 2002 2014
dbSNP: rs63750004
rs63750004
PSEN1
3 0.851 0.080 14 73173655 missense variant T/A;C snv 0.030 1.000 3 1999 2010
dbSNP: rs63750929
rs63750929
PSEN1
3 0.882 0.080 14 73217177 missense variant G/T snv 0.020 0.500 2 2008 2020