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: rs1187120
rs1187120 		3 0.925 0.040 6 34182850 intergenic variant T/C snv 0.99 0.010 1.000 1 2015 2015
dbSNP: rs1784933
rs1784933
SORL1
3 0.882 0.080 11 121618707 intron variant G/A snv 0.84 0.010 1.000 1 2016 2016
dbSNP: rs592297
rs592297
PICALM
2 0.925 0.080 11 86014894 synonymous variant C/T snv 0.78 0.82 0.010 1.000 1 2016 2016
dbSNP: rs543293
rs543293 		3 0.925 0.080 11 86109035 regulatory region variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs541458
rs541458 		4 0.851 0.080 11 86077309 regulatory region variant C/T snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs3851179
rs3851179 		15 0.752 0.280 11 86157598 downstream gene variant T/C snv 0.70 0.020 1.000 2 2015 2017
dbSNP: rs702723
rs702723
PLK2
2 0.925 0.080 5 58457629 non coding transcript exon variant C/T snv 0.67 0.66 0.010 1.000 1 2016 2016
dbSNP: rs11637611
rs11637611
PARP6
4 0.851 0.160 15 72259371 intron variant C/T snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs8702
rs8702
KLC1
5 0.851 0.160 14 103686015 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2007 2007
dbSNP: rs391300
rs391300
SRR
4 0.882 0.160 17 2312964 intron variant T/C snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs3846662
rs3846662
HMGCR
12 0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58 0.020 0.500 2 2019 2019
dbSNP: rs610932
rs610932
MS4A6A
5 0.851 0.080 11 60171834 downstream gene variant T/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.020 1.000 2 2019 2019
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.040 1.000 4 2013 2019
dbSNP: rs1010159
rs1010159
SORL1
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2015 2015
dbSNP: rs6598008
rs6598008
CDHR5
2 0.925 0.080 11 618172 intron variant A/G snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2015 2015
dbSNP: rs11887120
rs11887120
DNMT3A
4 0.882 0.080 2 25262866 intron variant C/T snv 0.45 0.010 1.000 1 2016 2016
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2009 2016
dbSNP: rs640476
rs640476 		1 1.000 0.040 5 161277998 intergenic variant T/G snv 0.42 0.010 1.000 1 2018 2018
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 2007 2007
dbSNP: rs2230806
rs2230806
ABCA1
24 0.689 0.280 9 104858586 missense variant C/T snv 0.32 0.39 0.010 1.000 1 2017 2017
dbSNP: rs641120
rs641120
SORL1
3 0.882 0.080 11 121510256 intron variant G/A snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs15009
rs15009
PLK2
2 0.925 0.080 5 58454523 3 prime UTR variant C/G snv 0.37 0.010 1.000 1 2016 2016