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: 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: 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: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs769757835
rs769757835
APP
1 1.000 0.080 21 26000117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs779407819
rs779407819
APP
1 1.000 0.080 21 26021899 missense variant G/A snv 1.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
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: 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: rs958576773
rs958576773
ITPR3
1 1.000 0.080 6 33662534 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1712572
rs1712572
LINC00882
1 1.000 0.080 3 106898231 non coding transcript exon variant A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1348800465
rs1348800465
MAPT
1 1.000 0.080 17 45991491 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1015909000
rs1015909000
NFIB
1 1.000 0.080 9 14146790 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.100 1.000 14 1996 2019
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.100 1.000 10 1997 2019
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.090 1.000 9 1997 2013
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.050 1.000 5 2000 2017
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: rs63750001
rs63750001
PSEN1
4 0.851 0.080 14 73219188 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs63750590
rs63750590
PSEN1
10 0.790 0.120 14 73186860 missense variant A/G snv 0.020 1.000 2 1996 2007
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 < 0.001 2 1997 2019
dbSNP: rs63751309
rs63751309
PSEN1
3 0.882 0.080 14 73192733 missense variant T/C snv 0.020 1.000 2 1996 2008
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2005 2006
dbSNP: rs115865530
rs115865530
PSEN1
2 0.925 0.080 14 73206449 missense variant A/G snv 1.4E-04 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1179768627
rs1179768627
PSEN1
2 0.925 0.080 14 73198064 missense variant T/G snv 4.0E-06 0.010 < 0.001 1 2011 2011