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: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.060 1.000 6 2000 2012
dbSNP: rs1801282
rs1801282
77 0.543 0.679 3 12351626 missense variant C/G snp 0.11 1.0E-01 0.040 1.000 4 2006 2016
dbSNP: rs1805192
rs1805192
75 0.545 0.679 3 12379739 missense variant C/G snp 0.040 1.000 4 2006 2016
dbSNP: rs397507444
rs397507444
169 0.457 0.714 1 11794407 missense variant T/G snp 0.030 1.000 3 2003 2008
dbSNP: rs121908529
rs121908529
4 0.846 0.143 2 240871433 missense variant G/A,C snp 5.6E-04 5.7E-04 0.020 1.000 2 2010 2015
dbSNP: rs12437854
rs12437854
2 0.923 0.071 15 93598604 intron variant T/G snp 0.10 0.020 1.000 2 2013 2015
dbSNP: rs3732378
rs3732378
28 0.667 0.500 3 39265671 missense variant G/A snp 0.14 0.12 0.020 1.000 2 2004 2011
dbSNP: rs3732379
rs3732379
15 0.715 0.357 3 39265765 missense variant C/T snp 0.22 0.22 0.020 1.000 2 2004 2011
dbSNP: rs4961
rs4961
22 0.685 0.250 4 2904980 missense variant G/A,T snp 1.2E-05; 0.20 0.17 0.020 0.500 2 2003 2004
dbSNP: rs10137082
rs10137082
2 0.923 0.071 14 23370824 intergenic variant C/T snp 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1033182
rs1033182
3 0.878 0.143 6 151873899 intron variant G/A snp 0.25 0.010 1.000 1 2007 2007
dbSNP: rs10404257
rs10404257
2 0.923 0.071 19 38645846 intergenic variant G/A snp 0.51 0.010 1.000 1 2013 2013
dbSNP: rs1042713
rs1042713
38 0.622 0.571 5 148826877 missense variant G/A snp 0.42 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1044498
rs1044498
8 0.801 0.250 6 131851228 missense variant A/C,G snp 0.19 0.32 0.010 < 0.001 1 2008 2008
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.010 1.000 1 2009 2009
dbSNP: rs1061170
rs1061170
CFH
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.010 1.000 1 2009 2009
dbSNP: rs10808565
rs10808565
2 0.923 0.071 8 127995166 intron variant C/T snp 0.30 0.010 1.000 1 2007 2007
dbSNP: rs10887800
rs10887800
7 0.846 0.179 10 88316086 intron variant A/G,T snp 0.46 0.010 1.000 1 2013 2013
dbSNP: rs10951982
rs10951982
4 0.878 0.107 7 6382925 intron variant G/A,T snp 0.19 0.010 < 0.001 1 2016 2016
dbSNP: rs11089788
rs11089788
5 0.846 0.107 22 36355056 intron variant C/A snp 0.46 0.010 1.000 1 2011 2011
dbSNP: rs115489112
rs115489112
2 0.923 0.071 19 35830918 missense variant G/A snp 4.3E-04 1.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs11614913
rs11614913
49 0.585 0.607 12 53991815 mature miRNA variant C/T snp 0.39 0.35 0.010 1.000 1 2015 2015
dbSNP: rs12137135
rs12137135
2 0.923 0.071 1 22348728 regulatory region variant A/C,G snp 7.0E-03; 0.12 0.010 1.000 1 2015 2015
dbSNP: rs121908525
rs121908525
6 0.801 0.143 2 240875159 missense variant T/C snp 4.4E-05 6.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs121913059
rs121913059
CFH
11 0.744 0.214 1 196747245 missense variant C/T snp 1.4E-04 1.6E-04 0.010 1.000 1 2010 2010