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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs193922916
rs193922916
APP
6 0.827 0.080 21 25897619 missense variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs199887707
rs199887707
APP
3 0.882 0.080 21 25911840 missense variant C/T snv 3.8E-04 4.9E-04 0.010 < 0.001 1 2019 2019
dbSNP: rs200487832
rs200487832
APP
1 1.000 0.080 21 25976000 missense variant C/G;T snv 8.0E-06 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs201617677
rs201617677
PSEN1
1 1.000 0.080 14 73173698 missense variant G/A;T snv 6.4E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs202178897
rs202178897
PSEN2
1 1.000 0.080 1 226885596 missense variant G/A;T snv 1.2E-04; 4.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
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: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.060 1.000 6 1995 2016
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: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.070 1.000 7 1994 2016
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: rs63749805
rs63749805
PSEN1
6 0.807 0.120 14 73173577 missense variant C/G;T snv 0.050 1.000 5 1998 2018
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: rs63749884
rs63749884
PSEN2
5 0.851 0.160 1 226888979 missense variant G/A snv 0.040 1.000 4 2000 2012
dbSNP: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.060 1.000 6 1992 2007
dbSNP: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.020 1.000 2 2015 2016
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