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: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs9770242
rs9770242
5 0.851 0.240 7 106285885 5 prime UTR variant C/A snv 0.79 0.010 1.000 1 2012 2012
dbSNP: rs2808630
rs2808630
13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 < 0.001 1 2018 2018
dbSNP: rs12692386
rs12692386
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2015 2015
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs1764390
rs1764390
3 0.882 0.160 1 34794360 missense variant A/C;G;T snv 0.61 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1524668
rs1524668
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2016 2016
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2020
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2069948
rs2069948
5 0.851 0.160 20 35174686 non coding transcript exon variant C/T snv 0.55 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1360485
rs1360485
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 0.500 2 2014 2016
dbSNP: rs510432
rs510432
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.020 1.000 2 2014 2015
dbSNP: rs506027
rs506027
2 0.925 0.080 6 106326589 upstream gene variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs5744105
rs5744105
2 0.925 0.080 1 223142735 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2014 2014
dbSNP: rs352162
rs352162
3 0.882 0.160 3 52218953 non coding transcript exon variant T/C snv 0.55 0.010 1.000 1 2011 2011
dbSNP: rs805305
rs805305
3 0.882 0.120 6 31729610 intron variant C/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.020 1.000 2 2010 2011
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2013 2013
dbSNP: rs2972164
rs2972164
3 0.925 0.080 3 12292917 intron variant T/C snv 0.46 0.010 1.000 1 2018 2018