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: rs10737670
rs10737670
2 1.000 0.040 1 196388616 intron variant A/C;G snv 0.27 0.700 1.000 1 2013 2013
dbSNP: rs17050244
rs17050244
1 1.000 0.040 2 120525054 regulatory region variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 < 0.001 1 2015 2015
dbSNP: rs28366003
rs28366003
10 0.763 0.240 16 56608579 upstream gene variant A/C;G snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs2839127
rs2839127
1 1.000 0.040 21 46153636 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs9554320
rs9554320
3 0.882 0.160 13 28312790 intron variant A/C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 0.667 3 2004 2013
dbSNP: rs3093077
rs3093077
9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs10733086
rs10733086
CFH
1 1.000 0.040 1 196707805 intron variant A/C;T snv 0.800 1.000 3 2013 2018
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 < 0.001 2 2013 2016
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2008 2008
dbSNP: rs2027368
rs2027368
1 1.000 0.040 1 196382020 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs432007
rs432007
1 1.000 0.040 1 196823334 intron variant A/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121434382
rs121434382
3 0.925 0.040 1 186178506 missense variant A/G snv 7.3E-04 6.8E-04 0.050 1.000 5 2004 2007
dbSNP: rs1045216
rs1045216
1 1.000 0.040 10 122429681 missense variant A/G snv 0.68 0.69 0.730 0.750 4 2013 2018
dbSNP: rs10801555
rs10801555
CFH
1 1.000 0.040 1 196691131 intron variant A/G snv 0.64 0.800 1.000 4 2011 2013
dbSNP: rs12678919
rs12678919
10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.040 0.750 4 2014 2019
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.830 0.750 4 2012 2015
dbSNP: rs2072633
rs2072633
6 0.807 0.320 6 31951801 3 prime UTR variant A/G snv 0.59 0.030 1.000 3 2009 2019
dbSNP: rs6428357
rs6428357
CFH
1 1.000 0.040 1 196706441 intron variant A/G snv 0.62 0.700 1.000 3 2011 2013
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2016 2018
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.020 0.500 2 2009 2019
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.020 0.500 2 2010 2013
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.020 1.000 2 2015 2018