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: rs1045644
rs1045644
1 14 30885890 missense variant C/G snv 0.56 0.51 0.010 1.000 1 2019 2019
dbSNP: rs10495970
rs10495970
5 1.000 2 49264671 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs10504361
rs10504361
1 8 62972541 intron variant G/A snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs10509586
rs10509586
5 1.000 10 89981680 intron variant G/T snv 7.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs1159057
rs1159057
1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs12722486
rs12722486
5 1.000 10 6061799 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1330950
rs1330950
5 1.000 13 106686453 intron variant C/A snv 0.62 0.700 1.000 1 2014 2014
dbSNP: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
dbSNP: rs17108344
rs17108344
5 1.000 12 70560684 synonymous variant C/T snv 1.4E-02 3.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs200092345
rs200092345
2 8 19458576 missense variant T/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs209709
rs209709
1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs213273
rs213273
5 1.000 7 18464885 intron variant G/A snv 0.96 0.700 1.000 1 2014 2014
dbSNP: rs266095
rs266095
5 1.000 10 44368720 downstream gene variant C/T snv 3.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs28445017
rs28445017
1 6 31559979 downstream gene variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs301927
rs301927
1 3 97627774 intron variant G/A snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs41268673
rs41268673
1 2 166284599 missense variant G/C;T snv 4.0E-06; 2.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs4737264
rs4737264
1 8 55198762 intron variant A/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs502716
rs502716
5 1.000 20 945754 intergenic variant G/A snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs533235539
rs533235539
2 8 19405853 missense variant A/C snv 1.5E-04 9.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs62109459
rs62109459
1 19 35756909 missense variant C/G;T snv 1.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs6637197
rs6637197
5 1.000 X 144281548 intergenic variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7244245
rs7244245
5 1.000 18 8931654 intergenic variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs74401238
rs74401238
1 2 166251875 missense variant C/G;T snv 8.5E-05; 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs748095370
rs748095370
1 X 71224215 missense variant G/A snv 2.3E-05 1.9E-05 0.010 1.000 1 2010 2010
dbSNP: rs7554182
rs7554182
5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014