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: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
dbSNP: rs63750900
rs63750900
PSEN1
9 0.763 0.160 14 73198067 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs63751037
rs63751037
PSEN1
7 0.790 0.080 14 73173642 missense variant A/G snv 0.010 1.000 1 1998 1998
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.040 1.000 4 1999 2017
dbSNP: rs63750756
rs63750756
MAPT
23 0.716 0.200 17 46010324 missense variant T/G snv 2.6E-05 0.030 1.000 3 1999 2015
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.030 1.000 3 2000 2016
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs63750512
rs63750512
MAPT
6 0.827 0.160 17 46024010 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs63751399
rs63751399
PSEN1
3 0.882 0.120 14 73171047 missense variant T/A;C snv 0.010 1.000 1 2000 2000
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2012
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.030 1.000 3 2001 2018
dbSNP: rs1805054
rs1805054
HTR6
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.010 1.000 1 2001 2001
dbSNP: rs63750635
rs63750635
MAPT
5 0.851 0.120 17 46014286 missense variant C/T snv 0.020 1.000 2 2002 2003
dbSNP: rs63750444
rs63750444
PSEN1
4 0.882 0.080 14 73192745 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs63750959
rs63750959
MAPT
5 0.827 0.200 17 45962351 missense variant G/A;T snv 6.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.040 1.000 4 2003 2014
dbSNP: rs63750376
rs63750376
MAPT
7 0.827 0.120 17 45996657 missense variant G/T snv 0.030 1.000 3 2003 2006
dbSNP: rs28936380
rs28936380
PSEN2
5 0.827 0.080 1 226885546 missense variant C/G;T snv 1.2E-05 0.020 1.000 2 2003 2005
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 2003 2003
dbSNP: rs63749855
rs63749855
MAPT
8 0.790 0.200 17 46014271 missense variant T/G snv 0.010 1.000 1 2003 2003
dbSNP: rs63750066
rs63750066
APP
9 0.763 0.160 21 25891796 missense variant C/T snv 9.5E-05 6.3E-05 0.020 1.000 2 2004 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs63750579
rs63750579
APP
13 0.742 0.280 21 25891856 missense variant C/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs63751068
rs63751068
PSEN1
6 0.827 0.120 14 73186920 missense variant G/C;T snv 0.010 1.000 1 2004 2004