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: rs10127939
rs10127939
5 0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 1.000 1 2017 2017
dbSNP: rs11203368
rs11203368
3 0.925 0.200 1 17340013 intron variant C/T snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1635564
rs1635564
2 0.925 0.160 1 17357031 intron variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2015 2015
dbSNP: rs2298804
rs2298804
4 0.851 0.240 1 159304102 missense variant A/G;T snv 6.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs292001
rs292001
6 0.807 0.320 1 22638465 intron variant G/A snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs5744168
rs5744168
18 0.701 0.480 1 223111858 stop gained G/A snv 5.3E-02 4.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs6677604
rs6677604
CFH
7 0.827 0.200 1 196717788 intron variant G/A snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs6697139
rs6697139
2 0.925 0.160 1 161690906 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 < 0.001 1 2005 2005
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.010 1.000 1 2017 2017
dbSNP: rs11889341
rs11889341
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs11893826
rs11893826
2 0.925 0.160 2 40337507 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs329498
rs329498
3 0.882 0.200 2 64100410 synonymous variant G/A;C;T snv 8.0E-06; 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3792192
rs3792192
2 0.925 0.160 2 160030364 intron variant G/A snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs434082
rs434082
3 0.925 0.160 2 40257934 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs4664308
rs4664308
4 0.851 0.160 2 160060986 intron variant A/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs4984
rs4984
3 0.925 0.160 2 70673271 synonymous variant G/A snv 0.12 0.15 0.010 1.000 1 2015 2015
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2010 2017
dbSNP: rs352139
rs352139
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2010 2010
dbSNP: rs1364989
rs1364989
2 0.925 0.160 4 54145602 intron variant T/C snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs1391441
rs1391441
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs17008504
rs17008504
1 1.000 0.160 4 124718662 intergenic variant T/A snv 4.3E-02 0.010 1.000 1 2015 2015