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: rs10137082
rs10137082
2 0.925 0.080 14 23370824 upstream gene variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1020608562
rs1020608562
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs1033182
rs1033182
3 0.882 0.160 6 151873899 intron variant G/A snv 0.26 0.010 1.000 1 2007 2007
dbSNP: rs10404257
rs10404257
2 0.925 0.080 19 38645846 upstream gene variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs1042636
rs1042636
23 0.672 0.360 3 122284922 missense variant A/G snv 0.15 9.0E-02 0.020 1.000 2 2002 2009
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2010 2010
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 < 0.001 1 2008 2008
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2007 2007
dbSNP: rs104894833
rs104894833
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs1049255
rs1049255
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1057518923
rs1057518923
3 0.925 0.200 16 2115395 frameshift variant -/C delins 0.700 0
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 2009 2009
dbSNP: rs10808565
rs10808565
2 0.925 0.080 8 127995166 non coding transcript exon variant C/T snv 0.31 0.010 1.000 1 2007 2007
dbSNP: rs10887800
rs10887800
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10951982
rs10951982
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs11089781
rs11089781
2 0.925 0.080 22 36160720 stop gained G/A snv 1.6E-02 6.5E-02 0.010 1.000 1 2018 2018
dbSNP: rs11089788
rs11089788
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs112417755
rs112417755
1 1.000 0.080 10 8073738 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs115489112
rs115489112
2 0.925 0.080 19 35830918 missense variant G/A snv 4.3E-04 1.6E-03 0.010 1.000 1 2014 2014
dbSNP: rs11571317
rs11571317
3 0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2014 2014
dbSNP: rs1162592300
rs1162592300
ALB
3 0.925 0.080 4 73412045 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs11643718
rs11643718
10 0.807 0.240 16 56899607 missense variant G/A snv 0.11 8.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010