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: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.840 0.875 8 2010 2019
dbSNP: rs493258
rs493258
3 0.925 0.040 15 58395681 intron variant T/C snv 0.50 0.860 1.000 7 2010 2019
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.750 1.000 6 2013 2019
dbSNP: rs3793917
rs3793917
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.840 0.833 6 2010 2013
dbSNP: rs943080
rs943080
6 0.807 0.040 6 43858890 TF binding site variant C/T snv 0.61 0.840 1.000 6 2013 2019
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: 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: rs1467528955
rs1467528955
1 1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06 0.040 1.000 4 2006 2010
dbSNP: rs1853883
rs1853883
1 1.000 0.040 1 196912470 intron variant G/C;T snv 0.710 1.000 4 2010 2013
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.040 1.000 4 2006 2019
dbSNP: rs4711751
rs4711751
3 0.882 0.040 6 43860845 intergenic variant T/C snv 0.37 0.830 1.000 4 2011 2018
dbSNP: rs6667243
rs6667243
1 1.000 0.040 1 196972363 downstream gene variant T/C snv 0.62 0.710 1.000 4 2011 2013
dbSNP: rs8017304
rs8017304
1 1.000 0.040 14 68318360 intron variant G/A snv 0.54 0.830 1.000 4 2013 2019
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: rs10922153
rs10922153
1 1.000 0.040 1 197009485 3 prime UTR variant T/G snv 0.38 0.710 1.000 3 2010 2013
dbSNP: rs147859257
rs147859257
C3
6 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 0.720 1.000 3 2014 2018
dbSNP: rs1713985
rs1713985
4 0.882 0.040 4 56920284 intron variant G/T snv 0.92 0.820 0.667 3 2011 2013
dbSNP: rs1800555
rs1800555
1 1.000 0.040 1 93998061 missense variant C/T snv 1.1E-02 1.0E-02 0.030 0.667 3 2000 2015
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.820 0.667 3 2011 2018
dbSNP: rs200483076
rs200483076
1 1.000 0.040 22 32688525 intron variant A/C snv 0.700 1.000 3 2010 2011
dbSNP: rs2019727
rs2019727
CFH
1 1.000 0.040 1 196705584 intron variant T/A snv 0.24 0.700 1.000 3 2010 2013
dbSNP: rs203674
rs203674
CFH
1 1.000 0.040 1 196715495 intron variant G/T snv 0.65 0.710 1.000 3 2010 2015
dbSNP: rs2672587
rs2672587
1 1.000 0.040 10 122475839 intron variant G/C;T snv 0.710 1.000 3 2010 2013