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: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.900 0.936 218 2005 2019
dbSNP: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.900 0.979 97 2006 2019
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.900 0.980 51 2005 2019
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: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.900 0.852 27 2009 2020
dbSNP: rs641153
rs641153
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.900 0.947 19 2007 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: rs10468017
rs10468017
12 0.851 0.120 15 58386313 intron variant C/T snv 0.24 0.890 0.900 10 2010 2019
dbSNP: rs429608
rs429608
4 0.851 0.160 6 31962685 intron variant G/A snv 0.14 0.16 0.870 1.000 12 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: rs9332739
rs9332739
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.860 1.000 8 2006 2018
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: 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: 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: 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: 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: 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: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.830 0.750 4 2012 2015
dbSNP: rs4711751
rs4711751
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.830 1.000 4 2011 2018
dbSNP: rs8017304
rs8017304
1 1.000 0.040 14 68318360 intron variant G/A snv 0.54 0.830 1.000 4 2013 2019
dbSNP: rs1713985
rs1713985
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.820 0.667 3 2011 2013
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.820 0.667 3 2011 2018
dbSNP: rs6795735
rs6795735
7 0.882 0.120 3 64719689 intron variant C/A;G;T snv 0.820 1.000 3 2013 2019
dbSNP: rs9542236
rs9542236
1 1.000 0.040 13 31245188 intron variant T/C snv 0.34 0.820 0.667 3 2013 2019
dbSNP: rs12153855
rs12153855
11 0.776 0.320 6 32107027 intron variant T/C snv 0.11 0.820 1.000 2 2012 2016