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: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 < 0.001 1 2016 2016
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: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.010 1.000 1 2017 2017
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: rs6897932
rs6897932
25 0.683 0.560 5 35874473 missense variant C/T snv 0.23 0.21 0.010 < 0.001 1 2014 2014
dbSNP: rs4958881
rs4958881
7 0.827 0.280 5 151070675 intron variant T/C snv 0.21 0.010 1.000 1 2013 2013
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: rs2295415
rs2295415
3 0.882 0.160 10 35212510 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2018 2018
dbSNP: rs2271100
rs2271100
AGA
1 1.000 0.160 4 177438525 intron variant T/C snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2017 2017
dbSNP: rs4984
rs4984
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2015 2015
dbSNP: rs434082
rs434082
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
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: rs6056923
rs6056923
1 1.000 0.160 20 9840271 intron variant T/C snv 0.10 0.010 1.000 1 2015 2015
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 < 0.001 1 2016 2016
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: rs2397084
rs2397084
14 0.716 0.480 6 52237046 missense variant T/C snv 6.7E-02 6.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs17008504
rs17008504
1 1.000 0.160 4 124718662 intergenic variant T/A snv 4.3E-02 0.010 1.000 1 2015 2015
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: 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: 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: 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: rs11981433
rs11981433
4 0.882 0.240 7 95425028 intron variant T/C;G snv 0.010 < 0.001 1 2011 2011