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
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.900 0.941 191 2005 2018
dbSNP: rs10490924
rs10490924
12 0.744 0.143 10 122454932 missense variant G/T snp 0.26 0.25 0.900 0.988 97 2006 2018
dbSNP: rs11200638
rs11200638
8 0.784 0.143 10 122461028 regulatory region variant G/A snp 0.25 0.900 0.897 41 2006 2018
dbSNP: rs800292
rs800292
CFH
22 0.679 0.464 1 196673103 missense variant G/A snp 0.32 0.39 0.900 0.966 33 2005 2018
dbSNP: rs2230199
rs2230199
C3
4 0.878 0.036 19 6718376 missense variant G/C,T snp 0.15 0.14 0.900 0.786 22 2007 2018
dbSNP: rs641153
rs641153
CFB
3 0.878 0.036 6 31946403 stop gained G/A,T snp 9.6E-02; 4.1E-06 0.11 0.900 0.917 15 2007 2014
dbSNP: rs1410996
rs1410996
CFH
6 0.846 0.107 1 196727803 intron variant G/A snp 0.44 0.900 0.909 13 2007 2016
dbSNP: rs429608
rs429608
3 0.878 0.036 6 31962685 intron variant G/A snp 0.14 0.15 0.850 1.000 11 2010 2018
dbSNP: rs9332739
rs9332739
5 0.846 0.179 6 31936027 stop lost G/A,C snp 4.1E-06; 3.9E-02 3.5E-02 0.850 1.000 7 2006 2012
dbSNP: rs10468017
rs10468017
12 0.846 0.107 15 58386313 intron variant C/T snp 0.25 0.850 1.000 6 2010 2016
dbSNP: rs3793917
rs3793917
1 1.000 0.036 10 122459759 regulatory region variant C/G snp 0.25 0.840 0.750 6 2010 2014
dbSNP: rs3764261
rs3764261
19 0.769 0.179 16 56959412 intergenic variant C/A snp 0.31 0.830 0.667 5 2010 2016
dbSNP: rs493258
rs493258
2 1.000 0.036 15 58395681 intron variant T/C snp 0.50 0.830 1.000 4 2010 2014
dbSNP: rs10033900
rs10033900
CFI
4 0.846 0.036 4 109737911 intron variant T/C snp 0.52 0.820 1.000 6 2010 2016
dbSNP: rs1329428
rs1329428
CFH
4 0.878 0.071 1 196733680 intron variant C/T snp 0.43 0.820 1.000 5 2007 2013
dbSNP: rs13278062
rs13278062
3 0.878 0.036 8 23225458 non coding transcript exon variant G/A,C,T snp 0.41 0.820 1.000 4 2011 2016
dbSNP: rs943080
rs943080
3 0.878 0.036 6 43858890 intergenic variant C/T snp 0.61 0.820 1.000 4 2013 2016
dbSNP: rs1713985
rs1713985
1 1.000 0.036 4 56920284 intron variant G/T snp 0.92 0.820 0.500 3 2011 2014
dbSNP: rs2075650
rs2075650
27 0.699 0.357 19 44892362 intron variant A/G snp 0.13 0.14 0.820 1.000 3 2013 2015
dbSNP: rs12153855
rs12153855
7 0.784 0.250 6 32107027 intron variant T/C snp 0.11 0.820 1.000 2 2013 2017
dbSNP: rs380390
rs380390
CFH
2 0.923 0.143 1 196731921 intron variant G/A,C,T snp 0.64; 6.4E-05 0.810 1.000 4 2005 2013
dbSNP: rs3750848
rs3750848
1 1.000 0.036 10 122455799 intron variant T/G snp 0.25 0.810 1.000 3 2010 2013
dbSNP: rs541862
rs541862
CFB
2 0.923 0.143 6 31949174 non coding transcript exon variant T/C snp 0.11 0.810 1.000 3 2012 2013
dbSNP: rs1061147
rs1061147
CFH
1 1.000 0.036 1 196685194 missense variant A/C snp 0.68 0.62 0.810 1.000 2 2008 2013
dbSNP: rs2285714
rs2285714
1 1.000 0.036 4 109717654 synonymous variant C/T snp 0.37 0.32 0.810 1.000 2 2010 2013