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: rs2146323
rs2146323
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.020 < 0.001 2 2010 2016
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.020 < 0.001 2 2013 2016
dbSNP: rs10272438
rs10272438
1 1.000 0.040 7 33199222 intron variant A/G snv 0.19 0.010 < 0.001 1 2007 2007
dbSNP: rs1048118
rs1048118
CFP
1 1.000 0.040 X 47624401 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs11603020
rs11603020
2 0.925 0.120 11 57606859 intron variant T/C snv 0.21 0.010 < 0.001 1 2010 2010
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 < 0.001 1 2015 2015
dbSNP: rs1878326
rs1878326
2 0.925 0.160 15 88907356 missense variant G/T snv 0.62 0.67 0.010 < 0.001 1 2012 2012
dbSNP: rs2649663
rs2649663
1 1.000 0.040 11 57589832 intergenic variant G/A snv 0.81 0.010 < 0.001 1 2012 2012
dbSNP: rs3091312
rs3091312
1 1.000 0.040 3 46266981 downstream gene variant T/A;G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs3093077
rs3093077
9 0.827 0.200 1 159709846 upstream gene variant A/C;G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 < 0.001 1 2015 2015
dbSNP: rs4576072
rs4576072
KDR
3 0.882 0.200 4 55120071 intron variant T/C snv 0.12 0.010 < 0.001 1 2015 2015
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: rs567262048
rs567262048
1 1.000 0.040 16 4508052 missense variant G/A snv 0.010 < 0.001 1 2011 2011
dbSNP: rs6828477
rs6828477
KDR
2 0.925 0.160 4 55100634 intron variant C/T snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.250 4 2005 2009
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.020 0.500 2 2009 2019
dbSNP: rs10490923
rs10490923
2 0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02 0.020 0.500 2 2012 2014
dbSNP: rs12614
rs12614
5 0.851 0.160 6 31946402 missense variant C/G;T snv 4.1E-06; 0.12 0.020 0.500 2 2014 2019
dbSNP: rs2071559
rs2071559
KDR
26 0.667 0.680 4 55126199 upstream gene variant A/G snv 0.53 0.020 0.500 2 2010 2013
dbSNP: rs2250656
rs2250656
C3
4 0.882 0.160 19 6718523 intron variant T/C snv 0.25 0.020 0.500 2 2009 2015
dbSNP: rs2285714
rs2285714
3 0.882 0.040 4 109717654 synonymous variant C/T snv 0.37 0.31 0.810 0.500 2 2010 2019
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.020 0.500 2 2017 2019