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: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.020 < 0.001 2 2007 2013
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 < 0.001 2 2007 2013
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 < 0.001 1 2005 2005
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 < 0.001 1 2009 2009
dbSNP: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs12150079
rs12150079
9 0.807 0.280 17 39869164 intron variant G/A snv 0.24 0.010 < 0.001 1 2018 2018
dbSNP: rs1371808321
rs1371808321
1 1.000 0.120 1 100724755 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs1453559
rs1453559
2 0.925 0.160 17 39864166 5 prime UTR variant T/C snv 0.47 0.52 0.010 < 0.001 1 2018 2018
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs2076530
rs2076530
17 0.724 0.640 6 32396039 missense variant T/C snv 0.42 0.40 0.010 < 0.001 1 2006 2006
dbSNP: rs2872507
rs2872507
12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs2941522
rs2941522
2 0.925 0.160 17 39754115 downstream gene variant C/T snv 0.49 0.010 < 0.001 1 2018 2018
dbSNP: rs33996649
rs33996649
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs3792876
rs3792876
7 0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs61747482
rs61747482
1 1.000 0.120 14 80955786 missense variant G/C snv 5.2E-03 5.0E-03 0.010 < 0.001 1 2002 2002
dbSNP: rs770562452
rs770562452
TPO
1 1.000 0.120 2 1487982 missense variant G/A snv 4.0E-06 1.4E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs78778622
rs78778622
3 0.882 0.160 11 124660768 missense variant T/A;C snv 4.0E-06; 3.8E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs867770797
rs867770797
8 0.851 0.200 4 147519875 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs868428082
rs868428082
TPO
1 1.000 0.120 2 1496182 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs886041906
rs886041906
6 0.882 0.200 2 203868002 stop gained G/A snv 0.010 < 0.001 1 2020 2020
dbSNP: rs907091
rs907091
6 0.851 0.280 17 39765489 3 prime UTR variant C/T snv 0.47 0.010 < 0.001 1 2018 2018
dbSNP: rs11675434
rs11675434
TPO
5 0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39 0.020 0.500 2 2015 2017
dbSNP: rs17879469
rs17879469
9 0.763 0.360 6 32584333 missense variant C/G snv 1.3E-05 0.020 0.500 2 2003 2005