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: rs11200638
rs11200638
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.900 0.900 50 2006 2019
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.900 0.929 14 2007 2019
dbSNP: rs547154
rs547154
3 0.882 0.160 6 31943161 intron variant G/T snv 0.12 0.100 1.000 14 2007 2018
dbSNP: rs10468017
rs10468017
12 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.890 0.900 10 2010 2019
dbSNP: rs121434491
rs121434491
15 0.752 0.200 2 55871091 missense variant G/A snv 0.090 0.889 9 2002 2019
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.840 0.875 8 2010 2019
dbSNP: rs3764261
rs3764261
26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.860 1.000 8 2010 2018
dbSNP: rs2511989
rs2511989
3 0.882 0.160 11 57610852 intron variant C/T snv 0.39 0.070 0.714 7 2008 2015
dbSNP: rs493258
rs493258
3 0.925 0.040 15 58395681 intron variant T/C snv 0.50 0.860 1.000 7 2010 2019
dbSNP: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.830 1.000 6 2006 2019
dbSNP: rs3793917
rs3793917
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.840 0.833 6 2010 2013
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.060 0.833 6 2009 2019
dbSNP: rs943080
rs943080
6 0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 0.840 1.000 6 2013 2019
dbSNP: rs9621532
rs9621532
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.730 1.000 6 2010 2019
dbSNP: rs1883025
rs1883025
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.740 0.600 5 2011 2018
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.050 0.800 5 2009 2019
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.800 1.000 4 2010 2013
dbSNP: rs10801555
rs10801555
CFH
1 1.000 0.040 1 196691131 intron variant A/G snv 0.64 0.800 1.000 4 2011 2013
dbSNP: rs12678919
rs12678919
10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.040 0.750 4 2014 2019
dbSNP: rs13278062
rs13278062
8 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 0.830 1.000 4 2011 2019
dbSNP: rs1413711
rs1413711
3 0.882 0.200 6 43772941 intron variant T/A;C snv 0.040 1.000 4 2012 2014
dbSNP: rs1853883
rs1853883
1 1.000 0.040 1 196912470 intron variant G/C;T snv 0.710 1.000 4 2010 2013
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.040 1.000 4 2006 2019
dbSNP: rs380390
rs380390
CFH
2 0.925 0.160 1 196731921 intron variant G/A;C;T snv 0.810 1.000 4 2005 2013
dbSNP: rs4711751
rs4711751
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.830 1.000 4 2011 2018