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: 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: 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: 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: 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: 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: 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: rs63751072
rs63751072
PSEN1
1 1.000 0.080 14 73192761 missense variant G/C snv 0.010 1.000 1 2003 2003
dbSNP: rs63751320
rs63751320
PSEN1
1 1.000 0.080 14 73192862 missense variant A/C snv 0.010 1.000 1 2003 2003
dbSNP: rs747363386
rs747363386
PSEN1
1 1.000 0.080 14 73173669 missense variant A/C;G snv 8.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs749453173
rs749453173
APP
1 1.000 0.080 21 25997360 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs923630119
rs923630119
TMEM106B
1 1.000 0.080 7 12215024 missense variant A/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: 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: 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: rs63749937
rs63749937
PSEN1
2 0.925 0.080 14 73198105 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs63750248
rs63750248
PSEN1
2 0.925 0.080 14 73198047 missense variant G/A;C;T snv 4.0E-06; 2.4E-05 0.010 1.000 1 1997 1997
dbSNP: rs63750322
rs63750322
PSEN1
2 0.925 0.080 14 73173654 missense variant A/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs63750524
rs63750524
PSEN1
2 1.000 0.080 14 73198095 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs63750569
rs63750569
PSEN1
2 0.925 0.080 14 73192711 missense variant G/A snv 0.010 1.000 1 2019 2019
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