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: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2007 2007
dbSNP: rs662799
rs662799
33 0.689 0.480 11 116792991 upstream gene variant G/A snv 0.90 0.010 1.000 1 2018 2018
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.020 1.000 2 2014 2019
dbSNP: rs1051931
rs1051931
19 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 0.010 1.000 1 2006 2006
dbSNP: rs4821480
rs4821480
9 0.807 0.160 22 36299201 intron variant G/T snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs646776
rs646776
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs2972146
rs2972146
9 0.882 0.040 2 226235982 intergenic variant G/T snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs5743810
rs5743810
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2014 2014
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: rs4916251
rs4916251
3 0.882 0.040 1 172377256 intron variant T/A snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs562020
rs562020
KL
1 1.000 0.040 13 33017932 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2943641
rs2943641
18 0.763 0.160 2 226229029 intergenic variant T/C snv 0.67 0.010 1.000 1 2013 2013
dbSNP: rs4901536
rs4901536
2 0.925 0.080 14 54733816 intron variant T/C snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs4523
rs4523
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.010 1.000 1 2019 2019
dbSNP: rs1867624
rs1867624
4 0.851 0.080 17 64309731 upstream gene variant C/T snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs6903956
rs6903956
10 0.763 0.160 6 11774350 intron variant A/G snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.030 1.000 3 2008 2012
dbSNP: rs9370867
rs9370867
7 0.827 0.120 6 16145094 missense variant A/G snv 0.60 0.63 0.010 < 0.001 1 2015 2015
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 < 0.001 1 2017 2017
dbSNP: rs6601530
rs6601530
1 1.000 0.040 8 10813762 intron variant G/A snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs2943650
rs2943650
6 0.827 0.120 2 226241205 intergenic variant C/T snv 0.58 0.010 1.000 1 2013 2013