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: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.700 1.000 2 2012 2016
dbSNP: rs114092250
rs114092250
4 0.851 0.040 5 35494346 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs114254831
rs114254831
5 0.827 0.040 6 32187804 intron variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs116503776
rs116503776
5 0.827 0.040 6 31962685 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs11884770
rs11884770
4 0.851 0.040 2 227222204 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1626340
rs1626340
5 0.827 0.120 9 99161090 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs17231506
rs17231506
10 0.851 0.040 16 56960616 upstream gene variant C/G;T snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs181705462
rs181705462
4 0.851 0.040 6 31979250 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2284665
rs2284665
3 0.882 0.040 10 122467114 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs55975637
rs55975637
4 0.851 0.040 3 99701009 intron variant G/A;T snv 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: rs61941274
rs61941274
5 0.827 0.160 12 111694806 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs62358361
rs62358361
C9
5 0.851 0.040 5 39327786 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs641153
rs641153
7 0.790 0.160 6 31946403 missense variant G/A;T snv 9.6E-02; 4.1E-06 0.700 1.000 1 2012 2012
dbSNP: rs71507014
rs71507014
4 0.851 0.040 9 70823689 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs73036519
rs73036519
5 0.851 0.040 19 45245104 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs79037040
rs79037040
6 0.807 0.160 8 23225458 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs9332739
rs9332739
10 0.763 0.360 6 31936027 missense variant G/A;C snv 4.1E-06; 3.9E-02 0.700 1.000 1 2012 2012
dbSNP: rs121913059
rs121913059
CFH
16 0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs141853578
rs141853578
CFI
6 0.807 0.040 4 109764664 missense variant C/T snv 4.2E-04 3.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs75165563
rs75165563
2 0.925 0.040 14 57220928 intron variant A/C snv 4.5E-04 0.700 1.000 1 2018 2018
dbSNP: rs2303790
rs2303790
19 0.724 0.280 16 56983380 missense variant A/G snv 2.6E-03 6.5E-04 0.700 1.000 1 2015 2015
dbSNP: rs147859257
rs147859257
C3
6 0.827 0.040 19 6718135 missense variant T/G snv 2.8E-03 2.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs191281603
rs191281603
4 0.851 0.040 1 196989521 intron variant C/G;T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs148553336
rs148553336
4 0.851 0.040 1 196644043 intergenic variant T/C snv 7.7E-03 0.700 1.000 1 2016 2016