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 0.010 < 0.001 1 2007 2007
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 < 0.001 1 2010 2010
dbSNP: rs12249854
rs12249854
3 0.882 0.160 10 91426505 intron variant T/A snv 0.21 0.010 < 0.001 1 2009 2009
dbSNP: rs17125944
rs17125944
3 0.882 0.160 14 52933911 intron variant T/C snv 8.6E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs2228479
rs2228479
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs2304456
rs2304456
4 0.925 0.120 3 186727263 missense variant T/G snv 0.12 9.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs242557
rs242557
12 0.752 0.200 17 45942346 intron variant G/A snv 0.36 0.010 < 0.001 1 2007 2007
dbSNP: rs2718058
rs2718058
2 0.925 0.080 7 37801932 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs35349669
rs35349669
2 0.925 0.080 2 233159830 intron variant C/T snv 0.35 0.010 < 0.001 1 2016 2016
dbSNP: rs3738401
rs3738401
4 0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26 0.010 < 0.001 1 2017 2017
dbSNP: rs3824966
rs3824966
1 1.000 0.080 11 121577474 intron variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 < 0.001 1 2015 2015
dbSNP: rs6084
rs6084
2 0.925 0.120 15 58545839 synonymous variant C/A;G snv 1.2E-05; 0.43 0.010 < 0.001 1 2008 2008
dbSNP: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.020 0.500 2 2011 2017
dbSNP: rs1925608
rs1925608
1 1.000 0.080 10 66990654 intron variant A/C snv 0.49 0.020 0.500 2 2012 2014
dbSNP: rs498055
rs498055
2 0.925 0.080 10 95595157 non coding transcript exon variant C/A;G;T snv 0.39 0.020 0.500 2 2006 2008
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 0.500 2 2012 2015
dbSNP: rs597668
rs597668
3 0.925 0.080 19 45205630 intron variant T/A;C;G snv 0.020 0.500 2 2011 2012
dbSNP: rs689021
rs689021
2 0.925 0.080 11 121500411 intron variant G/A snv 0.40 0.020 0.500 2 2015 2017
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.030 0.667 3 2007 2009
dbSNP: rs386747134
rs386747134
3 0.882 0.120 10 103458495 missense variant AGC/GGT mnv 0.030 0.667 3 2009 2010