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: rs1041740
rs1041740
3 1.000 0.036 21 31667849 intron variant C/T snp 0.23 0.010 1.000 1 2012 2012
dbSNP: rs10521145
rs10521145
1 16 28585563 intron variant G/A snp 9.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1063537
rs1063537
2 1.000 0.107 3 186856286 3 prime UTR variant C/T snp 8.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs1063856
rs1063856
VWF
7 0.878 0.179 12 6044368 missense variant T/C,G snp 0.31 0.40 0.010 < 0.001 1 2000 2000
dbSNP: rs11089788
rs11089788
5 0.846 0.107 22 36355056 intron variant C/A snp 0.46 0.010 1.000 1 2013 2013
dbSNP: rs11122576
rs11122576
AGT
2 1.000 0.071 1 230710933 intron variant T/C snp 8.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1143679
rs1143679
11 0.756 0.393 16 31265490 missense variant G/A snp 9.7E-02 0.11 0.010 1.000 1 2010 2010
dbSNP: rs11549465
rs11549465
27 0.662 0.357 14 61740839 missense variant C/T snp 8.8E-02 7.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs11568054
rs11568054
AGT
1 1 230709809 intron variant G/A snp 3.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs11643718
rs11643718
6 0.878 0.179 16 56899607 missense variant G/A snp 0.11 8.2E-02 0.010 1.000 1 2004 2004
dbSNP: rs11739136
rs11739136
9 0.846 0.143 5 170383792 missense variant C/T snp 9.9E-02 8.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs121908117
rs121908117
9 0.784 0.250 3 48466707 missense variant G/A snp 0.010 1.000 1 2015 2015
dbSNP: rs121918673
rs121918673
4 1.000 0.071 17 37701122 missense variant G/C snp 1.9E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs12431381
rs12431381
4 0.878 0.143 14 59643053 intron variant T/C snp 0.38 0.010 1.000 1 2016 2016
dbSNP: rs12434215
rs12434215
4 0.878 0.143 14 59642862 intron variant A/G snp 0.36 0.010 1.000 1 2016 2016
dbSNP: rs12794795
rs12794795
2 1.000 0.071 11 32604358 3 prime UTR variant A/T snp 0.010 1.000 1 2009 2009
dbSNP: rs13293564
rs13293564
2 1.000 0.107 9 35166766 intron variant G/A,T snp 3.2E-05; 0.45 0.010 1.000 1 2008 2008
dbSNP: rs13333226
rs13333226
5 0.923 0.071 16 20354332 intron variant A/G snp 0.22 0.010 1.000 1 2011 2011
dbSNP: rs140511594
rs140511594
4 0.878 0.071 2 165941111 missense variant G/A snp 1.3E-04 6.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs1524107
rs1524107
3 0.923 0.214 7 22728600 non coding transcript exon variant C/T snp 9.8E-02 0.010 1.000 1 2016 2016
dbSNP: rs1617640
rs1617640
EPO
10 0.801 0.321 7 100719675 regulatory region variant C/A,G,T snp 0.61 0.010 < 0.001 1 2015 2015
dbSNP: rs17881180
rs17881180
1 21 31659974 non coding transcript exon variant C/T snp 4.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs1799752
rs1799752
ACE
11 0.756 0.286 17 63488529 intron variant T/TATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC,TG in-del 0.010 1.000 1 2010 2010
dbSNP: rs1799864
rs1799864
39 0.626 0.536 3 46357717 missense variant G/A snp 0.13 0.12 0.010 < 0.001 1 2002 2002
dbSNP: rs1799883
rs1799883
26 0.679 0.250 4 119320747 missense variant T/A,C,G snp 0.73 0.74 0.010 1.000 1 2006 2006