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: rs754203
rs754203
CYP46A1
6 0.807 0.200 14 99691630 non coding transcript exon variant A/G snv 0.27 0.010 1.000 1 2006 2006
dbSNP: rs669
rs669
A2M ; KLRG1
7 0.851 0.080 12 9079672 missense variant T/C snv 0.31 0.33 0.010 1.000 1 2000 2000
dbSNP: rs5978930
rs5978930
ANOS1
4 0.882 0.080 X 8642266 intron variant T/C;G snv 0.010 1.000 1 2019 2019
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: 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: 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: rs12344615
rs12344615
UBQLN1
4 0.851 0.080 9 83666280 intron variant A/C;G snv 0.010 < 0.001 1 2012 2012
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: rs4717806
rs4717806
STX1A ; BUD23 ; LOC105375350
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs63750083
rs63750083
PSEN1
13 0.732 0.160 14 73219177 missense variant C/A;T snv 0.010 1.000 1 2002 2002
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.020 1.000 2 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: rs4718789
rs4718789 		2 0.925 0.120 7 68579188 intergenic variant C/T snv 8.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs7895833
rs7895833 		12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1256049
rs1256049
ESR2
32 0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02 0.010 1.000 1 2013 2013
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: 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: 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: 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
dbSNP: rs3796529
rs3796529
REST
3 0.925 0.080 4 56931248 missense variant C/T snv 0.22 0.22 0.010 1.000 1 2017 2017
dbSNP: rs12752888
rs12752888
LINC02784
4 0.851 0.160 1 54527266 downstream gene variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs16947151
rs16947151
ABI3
4 0.882 0.080 17 49213276 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
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: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2018 2018