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: rs367709245
rs367709245
APP
1 1.000 0.080 21 25891634 intron variant TACTTA/- delins 2.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1179768627
rs1179768627
PSEN1
2 0.925 0.080 14 73198064 missense variant T/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs63749961
rs63749961
PSEN1
3 0.925 0.080 14 73192772 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.010 1.000 1 2010 2010
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 8 1997 2016
dbSNP: rs63749835
rs63749835
PSEN1
5 0.851 0.080 14 73192799 missense variant T/C snv 0.020 1.000 2 2003 2017
dbSNP: rs1275544322
rs1275544322
APP
3 0.882 0.160 21 25975185 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs63750599
rs63750599
PSEN1
7 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs63750963
rs63750963
PSEN1
2 0.925 0.080 14 73186884 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2002 2002
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs63751032
rs63751032
PSEN1
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs63750265
rs63750265
PSEN1
3 0.882 0.080 14 73186869 missense variant T/A;C;G snv 0.010 1.000 1 2000 2000
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs63750399
rs63750399
APP
3 0.882 0.080 21 25891787 missense variant T/A;C snv 0.010 1.000 1 1997 1997
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: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.030 1.000 3 1997 2008
dbSNP: rs1043202
rs1043202
SMUG1
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs63750588
rs63750588
PSEN1
3 0.925 0.080 14 73173687 missense variant T/A snv 0.010 1.000 1 2004 2004
dbSNP: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.030 1.000 3 2008 2020
dbSNP: rs63750815
rs63750815
PSEN1
3 0.882 0.080 14 73170974 missense variant G/T snv 0.010 1.000 1 2002 2002