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: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.050 1.000 5 2002 2015
dbSNP: rs1799983
rs1799983
138 0.475 0.786 7 150999023 missense variant T/A,G snp 0.75 0.76 0.030 0.667 3 2009 2015
dbSNP: rs4986791
rs4986791
108 0.501 0.714 9 117713324 missense variant C/T snp 5.7E-02 5.1E-02 0.030 1.000 3 2002 2015
dbSNP: rs1800625
rs1800625
15 0.724 0.393 6 32184665 regulatory region variant A/G snp 0.15 0.020 1.000 2 2016 2016
dbSNP: rs2066844
rs2066844
32 0.638 0.500 16 50712015 missense variant C/T snp 2.6E-02 2.4E-02 0.020 1.000 2 2012 2014
dbSNP: rs2066845
rs2066845
28 0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05 0.020 1.000 2 2008 2012
dbSNP: rs4358188
rs4358188
BPI
6 0.821 0.143 20 38318446 missense variant G/A,C snp 0.46 0.49 0.020 1.000 2 2001 2015
dbSNP: rs5743551
rs5743551
7 0.784 0.214 4 38806033 intron variant T/A,C snp 0.40 0.020 1.000 2 2014 2016
dbSNP: rs5743708
rs5743708
45 0.605 0.643 4 153705165 missense variant G/A snp 1.7E-02 2.3E-02 0.020 1.000 2 2008 2016
dbSNP: rs10506481
rs10506481
3 0.878 0.071 12 66250331 3 prime UTR variant T/C snp 8.2E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs1059702
rs1059702
6 0.801 0.179 X 154018741 missense variant A/G snp 0.72 0.84 0.010 1.000 1 2007 2007
dbSNP: rs1059703
rs1059703
6 0.801 0.286 X 154013378 missense variant G/A snp 0.67 0.75 0.010 1.000 1 2007 2007
dbSNP: rs1061170
rs1061170
CFH
53 0.575 0.607 1 196690107 missense variant C/T snp 0.68 0.63 0.010 1.000 1 2011 2011
dbSNP: rs11137480
rs11137480
3 0.878 0.107 9 88989662 regulatory region variant G/C snp 0.36 0.010 < 0.001 1 2013 2013
dbSNP: rs1143643
rs1143643
3 0.878 0.179 2 112830725 intron variant C/T snp 0.30 0.010 1.000 1 2015 2015
dbSNP: rs11465996
rs11465996
3 0.878 0.143 8 73989727 intergenic variant C/G snp 0.26 0.010 1.000 1 2012 2012
dbSNP: rs11536889
rs11536889
8 0.769 0.286 9 117715853 3 prime UTR variant G/C snp 0.11 0.010 1.000 1 2014 2014
dbSNP: rs11684747
rs11684747
2 0.923 0.071 2 9557042 intergenic variant A/G snp 0.18 0.010 1.000 1 2017 2017
dbSNP: rs11689958
rs11689958
2 0.923 0.071 2 9557277 intergenic variant G/A snp 0.18 0.010 1.000 1 2017 2017
dbSNP: rs12048215
rs12048215
3 0.878 0.143 1 247421289 intron variant A/G snp 0.11 0.010 1.000 1 2013 2013
dbSNP: rs121917864
rs121917864
9 0.784 0.143 4 153704936 missense variant C/T snp 8.8E-05 9.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs12692386
rs12692386
4 0.846 0.107 2 9555777 5 prime UTR variant A/G snp 0.71 0.010 1.000 1 2017 2017
dbSNP: rs1524668
rs1524668
3 0.878 0.107 2 9557243 intergenic variant A/C snp 0.63 0.010 1.000 1 2017 2017
dbSNP: rs17602729
rs17602729
2 0.923 0.071 1 114693436 stop gained G/A,T snp 8.6E-02 9.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1764390
rs1764390
2 0.923 0.071 1 34794360 missense variant A/G snp 0.61 0.69 0.010 1.000 1 2017 2017