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: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.730 1.000 4 2011 2016
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 2011 2011
dbSNP: rs1061501
rs1061501
4 0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85 0.010 1.000 1 2011 2011
dbSNP: rs1061502
rs1061502
3 0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33 0.700 1.000 1 2016 2016
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.040 1.000 4 2000 2009
dbSNP: rs1063320
rs1063320
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.020 1.000 2 2011 2011
dbSNP: rs1065852
rs1065852
19 0.695 0.360 22 42130692 missense variant G/A snv 0.21 0.19 0.010 1.000 1 2016 2016
dbSNP: rs10750836
rs10750836
1 1.000 0.080 11 69048055 upstream gene variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10753074
rs10753074
1 1.000 0.080 1 173377204 intergenic variant C/T snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs10761670
rs10761670
1 1.000 0.080 10 62852354 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1077393
rs1077393
3 0.882 0.200 6 31642752 non coding transcript exon variant A/G snv 0.44 0.700 1.000 1 2014 2014
dbSNP: rs10774625
rs10774625
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.700 1.000 2 2015 2016
dbSNP: rs10798269
rs10798269
1 1.000 0.080 1 173340574 intergenic variant A/G;T snv 0.810 1.000 1 2008 2008
dbSNP: rs10798801
rs10798801
1 1.000 0.080 1 30760633 upstream gene variant A/G snv 0.64 0.010 1.000 1 2015 2015
dbSNP: rs10818488
rs10818488
8 0.776 0.360 9 120942809 regulatory region variant A/G snv 0.51 0.050 1.000 5 2008 2013
dbSNP: rs10819689
rs10819689
1 1.000 0.080 9 99637981 intron variant C/T snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs10822050
rs10822050
14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10840759
rs10840759
3 0.882 0.200 12 8138610 intron variant C/T snv 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs10845606
rs10845606
1 1.000 0.080 12 12681960 intron variant C/A snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs10847697
rs10847697
3 0.882 0.200 12 128814840 synonymous variant G/A snv 0.13 9.1E-02 0.720 1.000 3 2010 2016
dbSNP: rs10857635
rs10857635
1 1.000 0.080 10 48766611 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10865035
rs10865035
2 1.000 0.080 2 100219272 intron variant A/G snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.020 1.000 2 2010 2013
dbSNP: rs10889681
rs10889681
2 0.925 0.160 1 67333487 intron variant T/A;C snv 0.700 1.000 1 2017 2017