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: rs1163242089
rs1163242089
PSEN2
1 1.000 0.080 1 226885673 missense variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs140501902
rs140501902
PSEN2
6 0.807 0.160 1 226883774 missense variant C/T snv 3.6E-03 3.4E-03 0.010 1.000 1 2019 2019
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: 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: 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: rs63750569
rs63750569
PSEN1
2 0.925 0.080 14 73192711 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs63750921
rs63750921
APP
4 0.882 0.200 21 25891820 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs63751122
rs63751122
APP
2 0.925 0.080 21 25891765 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs63751484
rs63751484
PSEN1
2 0.925 0.080 14 73186867 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs923630119
rs923630119
TMEM106B
1 1.000 0.080 7 12215024 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057518919
rs1057518919
PSEN1
5 0.851 0.120 14 73171023 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs533813519
rs533813519
PSEN2
5 0.851 0.120 1 226888097 missense variant C/A snv 1.9E-04 4.2E-05 0.010 1.000 1 2018 2018
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: rs1223904774
rs1223904774
APP
8 0.790 0.120 21 25891772 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
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: 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: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs63750487
rs63750487
PSEN1
3 0.882 0.120 14 73192771 missense variant C/T snv 0.010 1.000 1 2016 2016
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