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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 1.000 20 2005 2019
dbSNP: rs12425791
rs12425791
4 0.882 0.120 12 674318 downstream gene variant G/A;C snv 0.100 0.857 14 2009 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.909 11 2006 2018
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 0.778 9 2001 2013
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.060 0.833 6 2006 2018
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 0.833 6 2007 2019
dbSNP: rs17222919
rs17222919
2 1.000 0.080 13 30734192 intron variant T/A;G snv 0.040 0.750 4 2011 2019
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 0.040 1.000 4 2006 2019
dbSNP: rs10947803
rs10947803
2 1.000 0.080 6 39302834 intron variant C/A snv 0.030 1.000 3 2010 2014
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.030 1.000 3 2009 2014
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.030 < 0.001 3 2006 2015
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.030 0.667 3 2006 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.030 0.667 3 2006 2015
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.030 1.000 3 2008 2017
dbSNP: rs4044210
rs4044210
3 0.925 0.080 22 46390418 missense variant T/A;C snv 4.0E-06; 0.17 0.030 1.000 3 2009 2015
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.720 1.000 3 2013 2018
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.720 0.667 3 2016 2018
dbSNP: rs5985
rs5985
20 0.724 0.280 6 6318562 missense variant C/A;T snv 0.20; 2.4E-05 0.030 1.000 3 2002 2016
dbSNP: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.030 0.667 3 2013 2016
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.030 0.667 3 1999 2005
dbSNP: rs9579646
rs9579646
6 0.851 0.160 13 30736442 intron variant G/A;T snv 0.030 1.000 3 2007 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2012
dbSNP: rs1048990
rs1048990
8 0.790 0.280 14 35292469 5 prime UTR variant C/G;T snv 0.19; 4.0E-06 0.020 0.500 2 2009 2013
dbSNP: rs10887800
rs10887800
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.020 1.000 2 2017 2019