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: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.030 1.000 3 2008 2020
dbSNP: rs63749835
rs63749835
PSEN1
5 0.851 0.080 14 73192799 missense variant T/C snv 0.020 1.000 2 2003 2017
dbSNP: rs63751019
rs63751019
PSEN1
3 0.925 0.080 14 73198066 missense variant C/G snv 0.020 1.000 2 1996 2004
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 1.000 2 1998 2003
dbSNP: rs1043202
rs1043202
SMUG1
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1163242089
rs1163242089
PSEN2
1 1.000 0.080 1 226885673 missense variant C/G;T snv 0.010 1.000 1 2019 2019
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: rs1191863771
rs1191863771
APP
3 0.925 0.080 21 25911833 missense variant A/G snv 4.0E-06 0.010 1.000 1 2004 2004
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: rs121917808
rs121917808
PSEN1
3 0.882 0.080 14 73219192 missense variant C/A snv 0.010 1.000 1 1998 1998
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: rs1426802434
rs1426802434
BIN1
1 1.000 0.080 2 127070588 missense variant A/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143061887
rs143061887
PSEN2
3 0.925 0.080 1 226881960 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2016 2016
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: rs200169735
rs200169735
PSEN2
2 0.925 0.080 1 226895498 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs200347552
rs200347552
APP
2 0.925 0.080 21 26090000 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs200576075
rs200576075
PSEN1
2 0.925 0.080 14 73171031 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs2391191
rs2391191
DAOA ; DAOA-AS1
7 0.807 0.080 13 105467097 missense variant G/A snv 0.40 0.32 0.010 1.000 1 2016 2016
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: 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: rs543578531
rs543578531
GRN
1 1.000 0.080 17 44349703 missense variant C/A;T snv 2.3E-04; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs63749806
rs63749806
PSEN1
7 0.827 0.080 14 73186902 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs63749891
rs63749891
PSEN1
5 0.851 0.080 14 73198094 missense variant G/C;T snv 0.010 1.000 1 1997 1997
dbSNP: rs63749925
rs63749925
PSEN1
3 0.882 0.080 14 73219191 missense variant C/T snv 0.010 1.000 1 1999 1999