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: rs1057518919
rs1057518919
5 0.851 0.120 14 73171023 missense variant T/G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs137852959
rs137852959
9 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs555145190
rs555145190
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs63750301
rs63750301
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs63751011
rs63751011
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0
dbSNP: rs12604324
rs12604324
1 1.000 0.080 18 24164468 intron variant G/A snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs1741309
rs1741309
1 1.000 0.080 20 4163930 intron variant A/G snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs41526548
rs41526548
1 1.000 0.080 9 92129496 upstream gene variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs6857
rs6857
16 0.790 0.240 19 44888997 3 prime UTR variant C/T snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs1010159
rs1010159
3 0.882 0.080 11 121612692 non coding transcript exon variant C/T snv 0.55 0.55 0.010 1.000 1 2009 2009
dbSNP: rs1043202
rs1043202
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs104893875
rs104893875
13 0.742 0.120 4 89828170 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs104893941
rs104893941
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs104894002
rs104894002
7 0.790 0.320 6 41161557 stop gained G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs11136000
rs11136000
CLU
19 0.752 0.160 8 27607002 intron variant T/C snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs112451138
rs112451138
2 0.925 0.080 14 73192667 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11669576
rs11669576
6 0.851 0.160 19 11111624 missense variant G/A snv 4.3E-02 8.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121909330
rs121909330
VCP
11 0.752 0.200 9 35065364 missense variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs121909334
rs121909334
VCP
10 0.752 0.200 9 35065255 missense variant C/T snv 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs1231783932
rs1231783932
APP
11 0.763 0.120 21 26051171 missense variant T/A;C snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010