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: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.020 1.000 2 1998 2003
dbSNP: rs1799990
rs1799990
PRNP
23 0.683 0.440 20 4699605 missense variant A/G snv 0.31 0.33 0.010 1.000 1 2003 2003
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: 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: rs63751019
rs63751019
PSEN1
3 0.925 0.080 14 73198066 missense variant C/G snv 0.020 1.000 2 1996 2004
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: rs63749961
rs63749961
PSEN1
3 0.925 0.080 14 73192772 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63750588
rs63750588
PSEN1
3 0.925 0.080 14 73173687 missense variant T/A snv 0.010 1.000 1 2004 2004
dbSNP: rs63750599
rs63750599
PSEN1
7 0.827 0.160 14 73170963 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750888
rs63750888
PSEN1
2 0.925 0.080 14 73192828 missense variant A/C snv 0.010 1.000 1 2006 2006
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2007 2007
dbSNP: rs63750524
rs63750524
PSEN1
2 1.000 0.080 14 73198095 missense variant A/C snv 0.010 1.000 1 2007 2007
dbSNP: rs63750802
rs63750802
PSEN1
7 0.851 0.080 14 73219144 missense variant T/G snv 0.010 1.000 1 2007 2007
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: 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: 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: rs63750215
rs63750215
PSEN2
19 0.701 0.240 1 226885603 missense variant A/T snv 0.050 1.000 5 1997 2010
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