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: rs201459901
rs201459901
4 0.851 0.040 20 58078668 regulatory region variant -/A delins 0.21 0.700 1.000 1 2016 2016
dbSNP: rs5817082
rs5817082
4 0.851 0.040 16 56963437 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs71507014
rs71507014
4 0.851 0.040 9 70823689 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs9621532
rs9621532
4 0.851 0.040 22 32688525 intron variant A/C snv 5.8E-02 0.730 1.000 6 2010 2019
dbSNP: rs10737680
rs10737680
CFH
9 0.827 0.080 1 196710325 intron variant A/C snv 0.44 0.800 1.000 4 2010 2013
dbSNP: rs200483076
rs200483076
1 1.000 0.040 22 32688525 intron variant A/C snv 0.700 1.000 3 2010 2011
dbSNP: rs757537938
rs757537938
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.030 1.000 3 2006 2009
dbSNP: rs1061147
rs1061147
CFH
1 1.000 0.040 1 196685194 synonymous variant A/C snv 0.68 0.62 0.810 1.000 2 2007 2013
dbSNP: rs10801553
rs10801553
CFH
2 1.000 0.040 1 196686613 intron variant A/C snv 0.64 0.700 1.000 2 2013 2013
dbSNP: rs1831282
rs1831282
CFH
2 1.000 0.040 1 196704863 intron variant A/C snv 0.62 0.800 1.000 2 2013 2013
dbSNP: rs10922084
rs10922084
1 1.000 0.040 1 196556184 intron variant A/C snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs11080055
rs11080055
5 0.851 0.040 17 28322698 intron variant A/C snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs11200583
rs11200583
1 1.000 0.040 10 122363954 regulatory region variant A/C snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs11715522
rs11715522
1 1.000 0.040 3 39281672 missense variant A/C snv 0.42 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1486838526
rs1486838526
CFI
1 1.000 0.040 4 109764627 missense variant A/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs17073641
rs17073641
1 1.000 0.040 18 64751208 intergenic variant A/C snv 0.41 0.710 1.000 1 2013 2013
dbSNP: rs17573790
rs17573790
1 1.000 0.040 1 196640266 intergenic variant A/C snv 6.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs1853881
rs1853881
1 1.000 0.040 1 196946615 intron variant A/C snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs2740488
rs2740488
9 0.827 0.120 9 104899461 intron variant A/C snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs4565845
rs4565845
1 1.000 0.040 10 122399534 intron variant A/C snv 0.19 0.700 1.000 1 2013 2013
dbSNP: rs4660687
rs4660687
1 1.000 0.040 1 42911868 intergenic variant A/C snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs841853
rs841853
4 0.882 0.200 1 42935767 intron variant A/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs6428370
rs6428370
1 1.000 0.040 1 196875463 intron variant A/C;G snv 0.38 0.700 1.000 2 2013 2013
dbSNP: rs1042229
rs1042229
7 0.790 0.280 19 51746419 missense variant A/C;G snv 0.32; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1064583
rs1064583
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.010 1.000 1 2019 2019