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: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.020 1.000 2 2013 2016
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 1.000 2 2012 2013
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2012 2012
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10975003
rs10975003
3 0.882 0.080 9 5213687 intergenic variant T/C snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs11594656
rs11594656
9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs116488202
rs116488202
3 0.882 0.080 6 31377139 upstream gene variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11938228
rs11938228
4 0.882 0.120 4 153700794 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs12722495
rs12722495
5 0.851 0.200 10 6055320 intron variant T/C snv 7.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs1495965
rs1495965
8 0.790 0.280 1 67287825 intergenic variant C/T snv 0.55 0.010 1.000 1 2013 2013
dbSNP: rs2104286
rs2104286
25 0.662 0.440 10 6057082 intron variant T/C snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs2227982
rs2227982
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs2269067
rs2269067
C5
5 0.827 0.360 9 120974762 intron variant G/C snv 0.20 0.30 0.010 1.000 1 2015 2015
dbSNP: rs2297626
rs2297626
2 0.925 0.080 13 40659865 intron variant T/C snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs2986127
rs2986127
3 0.882 0.080 1 196935541 intergenic variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs30187
rs30187
14 0.732 0.360 5 96788627 missense variant T/A;C snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs33996649
rs33996649
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3810936
rs3810936
12 0.742 0.320 9 114790605 synonymous variant T/C snv 0.71 0.75 0.010 1.000 1 2015 2015
dbSNP: rs4505848
rs4505848
8 0.776 0.400 4 122211337 intron variant A/G snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs4788084
rs4788084
6 0.827 0.200 16 28528527 downstream gene variant C/T snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs4937362
rs4937362
5 0.827 0.240 11 128622844 intron variant T/C snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs6534639
rs6534639
2 0.925 0.080 4 79900765 downstream gene variant C/A snv 0.49 0.010 1.000 1 2018 2018