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: rs11057864
rs11057864
2 0.925 0.160 12 124851404 intron variant C/A snv 6.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs1108131
rs1108131
2 0.925 0.160 10 12455748 intron variant T/C snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs1364989
rs1364989
2 0.925 0.160 4 54145602 intron variant T/C snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs2647012
rs2647012
7 0.790 0.320 6 32696681 intergenic variant T/C snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs274068
rs274068
2 0.925 0.160 16 24887651 intron variant C/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs601162
rs601162
2 0.925 0.160 9 29632144 upstream gene variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs6697139
rs6697139
2 0.925 0.160 1 161690906 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7692514
rs7692514
2 0.925 0.160 4 65276878 intergenic variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs7773456
rs7773456
2 0.925 0.160 6 19823007 intron variant T/G snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs7834765
rs7834765
2 0.925 0.160 8 121263666 regulatory region variant G/T snv 0.32 0.700 1.000 1 2014 2014
dbSNP: rs8012283
rs8012283
NIN
2 0.925 0.160 14 50767442 intron variant A/G snv 0.23 0.700 1.000 1 2014 2014
dbSNP: rs958476
rs958476
2 0.925 0.160 11 129451923 3 prime UTR variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1143679
rs1143679
14 0.732 0.520 16 31265490 missense variant G/A snv 9.7E-02 0.11 0.020 1.000 2 2015 2018
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2017 2017
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2010 2017
dbSNP: rs7708392
rs7708392
13 0.732 0.400 5 151077924 intron variant G/C snv 0.44 0.020 1.000 2 2013 2018
dbSNP: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2017 2017
dbSNP: rs11203368
rs11203368
3 0.925 0.200 1 17340013 intron variant C/T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs114580964
rs114580964
1 1.000 0.160 6 31636736 missense variant C/A;T snv 3.4E-03 1.4E-03 0.010 1.000 1 2017 2017
dbSNP: rs117026326
rs117026326
10 0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs11893826
rs11893826
2 0.925 0.160 2 40337507 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2005 2005