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: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.020 1.000 2 2014 2015
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2010 2011
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.020 1.000 2 2001 2014
dbSNP: rs5743551
rs5743551
12 0.742 0.240 4 38806033 intron variant T/A;C snv 0.020 1.000 2 2014 2016
dbSNP: rs653765
rs653765
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.020 1.000 2 2015 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1045411
rs1045411
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs10506481
rs10506481
3 0.882 0.080 12 66250331 3 prime UTR variant T/C snv 9.0E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2020 2020
dbSNP: rs10865710
rs10865710
13 0.763 0.360 3 12311699 intron variant C/G snv 0.25 0.010 1.000 1 2016 2016
dbSNP: rs11137480
rs11137480
3 0.882 0.120 9 88989662 upstream gene variant G/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs11216153
rs11216153
2 0.925 0.080 11 116834384 upstream gene variant G/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2014 2014
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs11465996
rs11465996
7 0.790 0.240 8 73989727 upstream gene variant C/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs1153879
rs1153879
2 0.925 0.080 3 136392816 intron variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11666254
rs11666254
2 0.925 0.080 19 51759909 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs11684747
rs11684747
2 0.925 0.080 2 9557042 upstream gene variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11689958
rs11689958
2 0.925 0.080 2 9557277 upstream gene variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs12048215
rs12048215
3 0.882 0.160 1 247421289 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2018 2018