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: rs28936380
rs28936380
PSEN2
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs372642708
rs372642708
APP
2 0.925 0.080 21 26051152 missense variant C/T snv 2.4E-05 9.8E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs372702043
rs372702043
APP
2 0.925 0.120 21 25976006 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs557227002
rs557227002
APP
1 1.000 0.080 21 26000158 missense variant G/A snv 2.0E-04 4.9E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs58973334
rs58973334
PSEN2
3 0.882 0.080 1 226883748 missense variant G/A snv 8.6E-03 1.4E-02 0.010 1.000 1 2006 2006
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2001 2001
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 < 0.001 1 2019 2019
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: 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: rs63750064
rs63750064
APP
2 0.925 0.080 21 25897605 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.010 1.000 1 2004 2004
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: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750299
rs63750299
PSEN1
2 0.925 0.080 14 73186890 missense variant T/G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs63750301
rs63750301
PSEN1
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs63750363
rs63750363
APP
1 1.000 0.080 21 25897642 missense variant C/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1996 1996
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: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750601
rs63750601
PSEN1
3 0.882 0.080 14 73170995 missense variant G/T snv 0.010 1.000 1 1996 1996
dbSNP: rs63750634
rs63750634
PSEN1
3 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750730
rs63750730
PSEN1
6 0.827 0.120 14 73173574 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs63750852
rs63750852
PSEN1
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2006 2006