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: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2019 2019
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1061680
rs1061680
2 1.000 0.040 19 54632001 missense variant C/T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2016 2016
dbSNP: rs10743181
rs10743181
5 0.827 0.120 11 2208529 regulatory region variant A/G snv 0.77 0.700 1.000 1 2016 2016
dbSNP: rs10748781
rs10748781
11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10750899
rs10750899
5 0.827 0.120 11 58517478 intergenic variant G/A snv 0.95 0.700 1.000 1 2016 2016
dbSNP: rs10758669
rs10758669
10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10761648
rs10761648
5 0.827 0.120 10 62594503 intron variant C/T snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs10775412
rs10775412
5 0.827 0.120 17 27542007 intron variant A/C snv 0.30 0.700 1.000 1 2016 2016
dbSNP: rs1077667
rs1077667
2 0.925 0.120 19 6668961 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10781500
rs10781500
1 1.000 0.040 9 136374886 upstream gene variant C/G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs10800314
rs10800314
5 0.827 0.120 1 161502999 upstream gene variant C/A snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs10822050
rs10822050
14 0.724 0.240 10 62679011 downstream gene variant T/C snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.870 1.000 9 2010 2019
dbSNP: rs10870077
rs10870077
5 0.827 0.120 9 136369439 intron variant C/G snv 0.38 0.700 1.000 1 2016 2016
dbSNP: rs10889676
rs10889676
5 0.827 0.120 1 67256884 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10889677
rs10889677
40 0.627 0.720 1 67259437 3 prime UTR variant C/A snv 0.27 0.030 0.667 3 2009 2018
dbSNP: rs10917661
rs10917661
3 0.882 0.160 1 161671427 stop gained C/T snv 2.8E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs10946808
rs10946808
5 1.000 0.040 6 26233159 non coding transcript exon variant A/G snv 0.26 0.700 1.000 1 2010 2010
dbSNP: rs10988542
rs10988542
14 0.724 0.240 9 129894985 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs10995271
rs10995271
8 0.776 0.280 10 62678726 downstream gene variant G/C snv 0.32 0.700 1.000 1 2016 2016
dbSNP: rs11062357
rs11062357
1 1.000 0.040 12 312228 intron variant T/C snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs11062385
rs11062385
1 1.000 0.040 12 318409 missense variant A/C;G snv 1.2E-05; 0.31 0.010 1.000 1 2011 2011
dbSNP: rs11065898
rs11065898
2 1.000 0.040 12 111424771 intron variant C/T snv 0.21 0.700 1.000 1 2013 2013