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: rs63751032
rs63751032
PSEN1
7 0.851 0.080 14 73219156 missense variant T/A;G snv 0.010 1.000 1 2007 2007
dbSNP: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.030 1.000 3 2008 2020
dbSNP: rs1043202
rs1043202
SMUG1
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
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: rs63750082
rs63750082
PSEN1
13 0.732 0.120 14 73192712 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs63750852
rs63750852
PSEN1
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs63750522
rs63750522
PSEN1
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.020 1.000 2 2010 2018
dbSNP: rs182024939
rs182024939
MAPT
1 1.000 0.080 17 46010327 missense variant G/A;T snv 5.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs371425292
rs371425292
APP
10 0.763 0.160 21 25897627 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs372642708
rs372642708
APP
2 0.925 0.080 21 26051152 missense variant C/T snv 2.4E-05 9.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs374263073
rs374263073
LAMC2
3 0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05 0.010 1.000 1 2010 2010
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: rs63749964
rs63749964
APP
4 0.851 0.080 21 25891783 missense variant A/C snv 0.010 1.000 1 2010 2010
dbSNP: rs63750009
rs63750009
PSEN1
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.010 1.000 1 2010 2010
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: rs771744744
rs771744744
SMUG1
3 0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010
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: rs75932628
rs75932628
TREM2 ; LOC105375056
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 1.000 2 2013 2014
dbSNP: rs1208508997
rs1208508997
APP
1 1.000 0.080 21 26051097 missense variant G/C snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1347757721
rs1347757721
PSEN2
1 1.000 0.080 1 226894058 missense variant G/C snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1396086494
rs1396086494
APP
6 0.851 0.080 21 26051069 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs63751441
rs63751441
PSEN1
3 0.882 0.080 14 73173684 missense variant C/G;T snv 5.2E-05 0.010 1.000 1 2014 2014