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: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.010 < 0.001 1 2006 2006
dbSNP: rs1800576
rs1800576
4 0.925 0.080 20 23049378 missense variant C/T snv 2.0E-03 2.5E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs4642
rs4642
4 1.000 0.080 17 47292411 synonymous variant A/G snv 0.29 0.29 0.010 < 0.001 1 2015 2015
dbSNP: rs5918
rs5918
26 0.683 0.480 17 47283364 missense variant T/C snv 0.12 0.13 0.010 < 0.001 1 2015 2015
dbSNP: rs780225764
rs780225764
F2
2 1.000 0.080 11 46726797 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs9404941
rs9404941
1 6 31655039 intron variant T/C snv 4.4E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.050 0.600 5 2003 2017
dbSNP: rs147377392
rs147377392
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.030 0.667 3 2003 2013
dbSNP: rs2288904
rs2288904
8 0.807 0.240 19 10631494 missense variant A/G snv 0.80 0.83 0.720 0.750 4 2015 2020
dbSNP: rs78707713
rs78707713
2 1.000 0.120 10 69485520 intron variant T/C snv 8.5E-02 0.710 0.800 5 2015 2020
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.895 19 2000 2015
dbSNP: rs2066865
rs2066865
FGG
10 0.807 0.240 4 154604124 downstream gene variant G/A snv 0.26 0.860 0.900 10 2011 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.903 31 1997 2015
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.900 1.000 16 1997 2019
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.100 1.000 15 1999 2019
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.100 1.000 10 1999 2019
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.730 1.000 8 2012 2019
dbSNP: rs121918474
rs121918474
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.060 1.000 6 2014 2019
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.060 1.000 6 1999 2019
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.060 1.000 6 2008 2019
dbSNP: rs2036914
rs2036914
F11
5 0.882 0.160 4 186271327 intron variant T/C snv 0.57 0.830 1.000 5 2011 2019
dbSNP: rs2289252
rs2289252
4 1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35 0.740 1.000 5 2013 2019
dbSNP: rs2519093
rs2519093
ABO
16 0.882 0.200 9 133266456 intron variant T/C snv 0.820 1.000 4 2011 2019
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.800 1.000 4 2011 2016
dbSNP: rs13146272
rs13146272
3 1.000 0.040 4 186199057 missense variant C/A snv 0.57 0.61 0.030 1.000 3 2009 2019