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: rs10887710
rs10887710
2 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs12029406
rs12029406
3 0.882 0.120 1 199936700 intergenic variant C/T snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs12413624
rs12413624
5 0.851 0.120 10 118519432 intergenic variant T/A snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1447826
rs1447826
1 1.000 0.120 3 74669607 intergenic variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1517037
rs1517037
3 0.882 0.120 18 59211042 intergenic variant C/T snv 0.23 0.010 < 0.001 1 2018 2018
dbSNP: rs1552462
rs1552462
2 0.925 0.120 11 7235910 upstream gene variant C/T snv 2.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs2172905
rs2172905
1 1.000 0.120 6 170019278 regulatory region variant C/T snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs2903018
rs2903018
1 1.000 0.120 19 29164379 intergenic variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2980879
rs2980879
3 0.925 0.120 8 125469233 intron variant A/T snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs36115365
rs36115365
7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6001516
rs6001516
2 0.925 0.120 22 39248198 intron variant C/T snv 6.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs7503953
rs7503953
3 0.882 0.320 17 6238357 intergenic variant A/C snv 0.81 0.700 1.000 1 2011 2011
dbSNP: rs7675998
rs7675998
5 0.827 0.360 4 163086668 intergenic variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs889312
rs889312
14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2009 2009
dbSNP: rs9363918
rs9363918
3 0.882 0.200 6 68432116 intron variant T/G snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs9502893
rs9502893
5 0.827 0.120 6 1339954 intergenic variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs9543325
rs9543325
3 0.882 0.200 13 73342491 regulatory region variant C/G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs9564966
rs9564966
4 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs9573163
rs9573163
2 0.925 0.120 13 73334709 regulatory region variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs199976573
rs199976573
4 0.925 0.120 4 88132618 missense variant C/T snv 6.4E-05 5.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.740 1.000 4 2009 2015
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.020 1.000 2 2009 2010
dbSNP: rs150495372
rs150495372
3 0.925 0.120 4 99313834 missense variant C/T snv 3.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs35385902
rs35385902
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.020 1.000 2 2009 2010
dbSNP: rs1693482
rs1693482
12 0.807 0.240 4 99342808 missense variant C/T snv 0.34 0.31 0.010 1.000 1 2009 2009