Source: ALL
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: rs769742294
rs769742294
CD46
1 1.000 0.120 1 207757204 splice donor variant T/G snv 5.2E-05 4.2E-05 0.700 1.000 11 2006 2017
dbSNP: rs460897
rs460897
CFH
2 0.925 0.120 1 196747189 missense variant C/T snv 0.750 1.000 5 2006 2010
dbSNP: rs460184
rs460184
CFH
2 0.925 0.120 1 196747207 missense variant T/C snv 4.0E-06 1.4E-05 0.730 1.000 3 2006 2019
dbSNP: rs45574833
rs45574833
C4BPA ; LOC107985251
1 1.000 0.120 1 207126725 missense variant G/A;C snv 1.4E-02 1.4E-02 0.020 0.500 2 2008 2009
dbSNP: rs1027208016
rs1027208016
CD46
1 1.000 0.120 1 207790269 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs117905900
rs117905900
CFB ; CYP21A2
2 0.925 0.120 6 31948042 missense variant C/G;T snv 1.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs1181467668
rs1181467668
CD46
1 1.000 0.120 1 207793538 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121909583
rs121909583
C3
2 0.925 0.120 19 6709754 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121909585
rs121909585
C3
4 0.925 0.120 19 6692971 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121909748
rs121909748
CFB ; CYP21A2
2 0.925 0.120 6 31948443 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121913063
rs121913063
CFH
2 0.925 0.120 1 196747209 stop gained G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1221868049
rs1221868049
CFH
1 1.000 0.120 1 196737486 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1226060948
rs1226060948
CFH
1 1.000 0.120 1 196736878 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1230304944
rs1230304944
CD46
1 1.000 0.120 1 207785071 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs138675433
rs138675433
CFHR3
1 1.000 0.120 1 196790152 missense variant C/T snv 7.7E-02 8.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs149474608
rs149474608
CFH
2 0.925 0.120 1 196740686 missense variant G/A;T snv 8.0E-06; 3.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs41348347
rs41348347
THBD
3 0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs41400249
rs41400249
THBD
1 1.000 0.120 20 23048297 missense variant C/T snv 9.9E-04 3.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs55679475
rs55679475
CFH
1 1.000 0.120 1 196743490 missense variant T/C snv 6.6E-04 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs55771831
rs55771831
CFH
1 1.000 0.120 1 196743496 missense variant G/C snv 6.1E-04 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs776423109
rs776423109
C3
2 1.000 0.120 19 6718117 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs777787526
rs777787526
DGKE ; C17orf67
1 1.000 0.120 17 56835096 stop gained A/G;T snv 8.0E-06 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs780774047
rs780774047
CD46
1 1.000 0.120 1 207767136 missense variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs782488785
rs782488785
ADAMTS13
1 1.000 0.120 9 133456105 missense variant C/A;T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs904056711
rs904056711
ADAMTS13
1 1.000 0.120 9 133455399 missense variant G/C snv 0.010 1.000 1 2014 2014