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: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 < 0.001 2 2016 2019
dbSNP: rs505922
rs505922
ABO
20 0.689 0.520 9 133273813 intron variant C/T snv 0.020 < 0.001 2 2013 2017
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1229984
rs1229984
60 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs1492099
rs1492099
5 0.882 0.120 3 148719716 intron variant T/A;C snv 0.89 0.010 < 0.001 1 2020 2020
dbSNP: rs17228212
rs17228212
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs1906591
rs1906591
5 0.851 0.200 4 110787733 intergenic variant G/A snv 0.15 0.010 < 0.001 1 2014 2014
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 < 0.001 1 2015 2015
dbSNP: rs2075820
rs2075820
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.010 < 0.001 1 2009 2009
dbSNP: rs243832
rs243832
1 16 55505279 intron variant C/G snv 0.50 0.010 < 0.001 1 2018 2018
dbSNP: rs275653
rs275653
5 0.882 0.120 3 148697758 upstream gene variant A/G snv 0.20 0.010 < 0.001 1 2020 2020
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs4588
rs4588
GC
51 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 < 0.001 1 2015 2015
dbSNP: rs5498
rs5498
97 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 < 0.001 1 2015 2015
dbSNP: rs700651
rs700651
2 1.000 0.080 2 197766990 intron variant G/A snv 0.73 0.010 < 0.001 1 2012 2012
dbSNP: rs7041
rs7041
GC
61 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs705381
rs705381
2 1.000 0.080 7 95324637 upstream gene variant T/C snv 0.72 0.010 < 0.001 1 2013 2013
dbSNP: rs7201
rs7201
4 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 0.010 < 0.001 1 2018 2018
dbSNP: rs8176668
rs8176668
ABO
1 9 133268647 intron variant A/T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs918592
rs918592
2 1.000 0.080 5 60401476 intron variant C/T snv 0.36 0.010 < 0.001 1 2006 2006
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2019 2019
dbSNP: rs976683
rs976683
1 3 173767581 intron variant C/T snv 0.62 0.010 < 0.001 1 2013 2013
dbSNP: rs1333040
rs1333040
12 0.732 0.280 9 22083405 intron variant C/G;T snv 0.020 0.500 2 2012 2013
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 0.500 2 2000 2014