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: rs63750363
rs63750363
APP
1 1.000 0.080 21 25897642 missense variant C/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs63750601
rs63750601
PSEN1
3 0.882 0.080 14 73170995 missense variant G/T snv 0.010 1.000 1 1996 1996
dbSNP: rs63751420
rs63751420
PSEN1
2 0.925 0.080 14 73198040 missense variant C/T snv 0.010 1.000 1 1996 1996
dbSNP: rs778936527
rs778936527
PSEN2
2 0.925 0.080 1 226885669 missense variant G/A snv 2.4E-05 7.0E-06 0.010 1.000 1 1996 1996
dbSNP: rs779569800
rs779569800
APOE
1 1.000 0.080 19 44908714 missense variant G/A;C;T snv 1.3E-05; 6.3E-06; 6.3E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs63751163
rs63751163
PSEN1
7 0.807 0.120 14 73192844 missense variant T/C snv 0.010 1.000 1 1998 1998
dbSNP: rs63749880
rs63749880
PSEN1
2 0.925 0.080 14 73192720 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs63750053
rs63750053
PSEN1
5 0.827 0.120 14 73192721 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2000 2000
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2000 2000
dbSNP: rs63751141
rs63751141
PSEN1
3 0.882 0.080 14 73170984 missense variant G/C snv 0.010 1.000 1 2000 2000
dbSNP: rs63751235
rs63751235
PSEN1
6 0.807 0.120 14 73198117 missense variant C/G snv 0.010 1.000 1 2000 2000
dbSNP: rs6313
rs6313
HTR2A
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2001 2001
dbSNP: rs63751106
rs63751106
PSEN1
5 0.827 0.080 14 73173643 missense variant T/A;C snv 0.010 1.000 1 2001 2001
dbSNP: rs63751441
rs63751441
PSEN1
3 0.882 0.080 14 73173684 missense variant C/G;T snv 5.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs63750311
rs63750311
PSEN1
8 0.790 0.240 14 73192647 missense variant A/C snv 0.010 1.000 1 2002 2002
dbSNP: rs63750634
rs63750634
PSEN1
3 0.925 0.120 14 73192843 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750064
rs63750064
APP
2 0.925 0.080 21 25897605 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs28936380
rs28936380
PSEN2
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs769757835
rs769757835
APP
1 1.000 0.080 21 26000117 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs958576773
rs958576773
ITPR3
1 1.000 0.080 6 33662534 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs765670175
rs765670175
PSEN1
7 0.790 0.120 14 73173646 missense variant T/A snv 8.0E-06 0.020 1.000 2 2005 2006
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 2006 2006
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 2006 2006