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: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.820 1.000 11 2007 2019
dbSNP: rs10524523
rs10524523
TOMM40
7 0.807 0.200 19 44899792 intron variant TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT delins 0.100 0.900 10 2012 2017
dbSNP: rs4147929
rs4147929
ABCA7
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.860 1.000 10 2013 2019
dbSNP: rs572842823
rs572842823
APP
11 0.763 0.160 21 25897626 missense variant T/A;G snv 0.100 1.000 10 1998 2018
dbSNP: rs63749810
rs63749810
APP
3 0.882 0.200 21 25891853 missense variant C/T snv 0.720 1.000 10 2001 2019
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.100 1.000 10 2001 2017
dbSNP: rs8106922
rs8106922
TOMM40
5 1.000 0.080 19 44898409 intron variant A/G snv 0.36 0.800 1.000 10 2009 2019
dbSNP: rs10402271
rs10402271 		7 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 0.800 1.000 9 2009 2019
dbSNP: rs63751039
rs63751039
APP
8 0.776 0.200 21 25891855 missense variant T/C snv 0.790 1.000 9 2001 2019
dbSNP: rs6857
rs6857
NECTIN2
16 0.790 0.240 19 44888997 3 prime UTR variant C/T snv 0.13 0.810 1.000 9 2009 2017
dbSNP: rs11218343
rs11218343
SORL1
2 0.925 0.080 11 121564878 intron variant T/A;C snv 0.830 1.000 8 2013 2019
dbSNP: rs5848
rs5848
GRN ; FAM171A2
17 0.708 0.120 17 44352876 3 prime UTR variant C/T snv 0.41 0.080 1.000 8 2009 2017
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.080 1.000 8 2003 2019
dbSNP: rs6733839
rs6733839
LOC105373605
2 1.000 0.080 2 127135234 regulatory region variant C/T snv 0.39 0.820 1.000 8 2013 2019
dbSNP: rs28834970
rs28834970
PTK2B
3 0.882 0.120 8 27337604 intron variant T/C snv 0.32 0.830 1.000 7 2013 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.070 0.714 7 2002 2017
dbSNP: rs541458
rs541458 		4 0.851 0.080 11 86077309 regulatory region variant C/T snv 0.71 0.760 0.857 7 2011 2019
dbSNP: rs63750526
rs63750526
PSEN1
10 0.776 0.160 14 73192832 missense variant C/A snv 0.070 1.000 7 2000 2014
dbSNP: rs10792832
rs10792832 		2 1.000 0.080 11 86156833 downstream gene variant A/G snv 0.70 0.800 1.000 6 2011 2019
dbSNP: rs11771145
rs11771145
EPHA1-AS1
2 0.925 0.080 7 143413669 intron variant G/A snv 0.42 0.810 1.000 6 2011 2019
dbSNP: rs2279590
rs2279590
CLU
5 0.851 0.200 8 27598736 non coding transcript exon variant T/C snv 0.69 0.840 1.000 6 2009 2019
dbSNP: rs242557
rs242557
MAPT
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.060 0.833 6 2008 2017
dbSNP: rs9331896
rs9331896
CLU ; MIR6843
4 0.851 0.080 8 27610169 intron variant C/G;T snv 0.820 1.000 6 2013 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.050 0.600 5 2005 2015
dbSNP: rs334558
rs334558
GSK3B ; LOC107986119
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.050 1.000 5 2009 2015