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: rs1883025
rs1883025
13 0.807 0.120 9 104902020 intron variant C/T snv 0.28 0.010 < 0.001 1 2014 2014
dbSNP: rs2285714
rs2285714
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2014 2014
dbSNP: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1999930
rs1999930
FRK
3 0.882 0.040 6 116065971 intergenic variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.100 0.923 26 2007 2019
dbSNP: rs3750847
rs3750847
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs3793917
rs3793917
3 0.882 0.040 10 122459759 non coding transcript exon variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs11200638
rs11200638
14 0.724 0.280 10 122461028 non coding transcript exon variant G/A snv 0.23 0.100 0.900 10 2007 2016
dbSNP: rs2672598
rs2672598
4 0.851 0.160 10 122461166 non coding transcript exon variant T/C snv 0.49 0.010 1.000 1 2016 2016
dbSNP: rs369149111
rs369149111
1 1.000 10 122461711 missense variant C/T snv 2.1E-02 9.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs1049331
rs1049331
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2293870
rs2293870
4 0.851 0.160 10 122461760 synonymous variant G/C;T snv 5.9E-02; 0.32 0.010 1.000 1 2016 2016
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2009 2009
dbSNP: rs1136287
rs1136287
8 0.790 0.280 17 1769982 missense variant C/T snv 0.61 0.69 0.020 1.000 2 2009 2012
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 < 0.001 1 2011 2011
dbSNP: rs3753394
rs3753394
CFH
5 0.882 0.040 1 196651787 upstream gene variant C/T snv 0.22 0.020 1.000 2 2008 2009
dbSNP: rs800292
rs800292
CFH
33 0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40 0.100 1.000 12 2008 2017
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.060 0.833 6 2008 2013
dbSNP: rs2274700
rs2274700
CFH
11 0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs1410996
rs1410996
CFH
11 0.807 0.240 1 196727803 intron variant G/A snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs1329428
rs1329428
CFH
9 0.807 0.160 1 196733680 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 < 0.001 1 2015 2015
dbSNP: rs12678919
rs12678919
10 0.882 0.080 8 19986711 intergenic variant A/G snv 1.0E-01 0.020 < 0.001 2 2013 2015
dbSNP: rs754100400
rs754100400
2 0.925 0.040 1 201211089 missense variant A/G snv 7.1E-06 4.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs10757278
rs10757278
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.010 1.000 1 2011 2011