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: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2010
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: 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: 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: 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: 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: 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: 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: rs63750110
rs63750110
PSEN2
1 1.000 0.080 1 226895548 missense variant A/C snv 3.6E-05 3.5E-05 0.010 1.000 1 2001 2001
dbSNP: rs63750666
rs63750666
PSEN2
2 0.925 0.080 1 226895521 missense variant C/T snv 3.6E-05 2.1E-05 0.010 1.000 1 2003 2003
dbSNP: rs63750812
rs63750812
PSEN2
2 0.925 0.080 1 226885623 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 1998 1998
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: 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: rs923630119
rs923630119
TMEM106B
1 1.000 0.080 7 12215024 missense variant A/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1043202
rs1043202
SMUG1
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
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: 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: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.050 1.000 5 1997 2016
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.040 0.500 4 2000 2013
dbSNP: rs63750929
rs63750929
PSEN1
4 0.882 0.080 14 73217177 missense variant G/T snv 0.030 1.000 3 2008 2020
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.030 1.000 3 1997 2008
dbSNP: rs63749835
rs63749835
PSEN1
5 0.851 0.080 14 73192799 missense variant T/C snv 0.020 1.000 2 2003 2017
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: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.020 1.000 2 2007 2013
dbSNP: rs63750730
rs63750730
PSEN1
6 0.827 0.120 14 73173574 missense variant C/T snv 0.020 1.000 2 2004 2015