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: rs3783613
rs3783613
6 0.851 0.200 1 100731231 missense variant G/A;C snv 4.0E-06; 9.9E-03 0.020 0.500 2 2002 2015
dbSNP: rs4376531
rs4376531
4 0.925 0.120 8 1906652 intron variant C/A;G snv 0.020 1.000 2 2011 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2005 2005
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.020 < 0.001 2 2013 2017
dbSNP: rs746682028
rs746682028
36 0.645 0.480 11 27658414 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs9521634
rs9521634
1 13 110181552 intron variant T/A;C snv 0.710 1.000 2 2018 2018
dbSNP: rs9551963
rs9551963
6 0.851 0.160 13 30758410 intron variant A/C;T snv 0.020 1.000 2 2014 2015
dbSNP: rs9797861
rs9797861
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs10123021
rs10123021
1 9 100689786 regulatory region variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1043994
rs1043994
7 0.827 0.120 19 15192033 synonymous variant T/A;C snv 4.0E-06; 0.85 0.010 1.000 1 2015 2015
dbSNP: rs1044498
rs1044498
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1052053
rs1052053
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs10743980
rs10743980
4 0.882 0.120 12 12259861 intron variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10887800
rs10887800
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10947803
rs10947803
2 1.000 0.080 6 39302834 intron variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs11030119
rs11030119
3 11 27706555 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11072518
rs11072518
3 15 74942269 upstream gene variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs11240065
rs11240065
1 1 147468451 intron variant T/C snv 0.700 1.000 1 2011 2011
dbSNP: rs112896372
rs112896372
1 5 3756587 intergenic variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs11548491
rs11548491
1 11 72237492 missense variant C/G;T snv 9.6E-02 0.700 1.000 1 2013 2013
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.700 1.000 1 2014 2014
dbSNP: rs11750568
rs11750568
3 1.000 0.080 5 179108712 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016