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: rs113974007
rs113974007
5 1.000 1 244750932 intergenic variant T/C snv 7.3E-02 0.700 1.000 1 2019 2019
dbSNP: rs12122100
rs12122100
4 1.000 1 147037378 intron variant T/C snv 0.76 0.800 1.000 1 2009 2009
dbSNP: rs2800778
rs2800778
5 1.000 1 164652278 intron variant T/G snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs2883821
rs2883821
5 1.000 1 18240357 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3806400
rs3806400
5 1.000 1 42960707 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs429360
rs429360
5 1.000 1 242242264 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs552304070
rs552304070
5 1.000 1 167426238 3 prime UTR variant AAA/-;A;AA;AAAA;AAAAAAAAA delins 4.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs57541735
rs57541735
5 1.000 1 32362000 missense variant G/A;C snv 4.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs626096
rs626096
5 1.000 1 34749623 intron variant C/T snv 6.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs7523050
rs7523050
5 1.000 1 108875057 intron variant C/A snv 0.18 0.700 1.000 1 2011 2011
dbSNP: rs7554182
rs7554182
5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs859208
rs859208
5 1.000 1 19308470 missense variant C/G snv 2.8E-02 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs10173355
rs10173355
6 1.000 2 233688675 intron variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs10182825
rs10182825
5 1.000 2 28788221 intron variant G/A snv 9.0E-02 0.700 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: rs12185555
rs12185555
4 1.000 2 226694601 regulatory region variant A/G snv 0.25 0.700 1.000 1 2009 2009
dbSNP: rs13391004
rs13391004
5 1.000 2 136609937 intergenic variant G/A snv 9.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs13394720
rs13394720
6 1.000 2 233593475 intergenic variant T/C snv 7.0E-02 0.800 1.000 1 2009 2009
dbSNP: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
dbSNP: rs17169
rs17169
5 0.925 2 8037334 intron variant G/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs17863787
rs17863787
9 0.925 0.040 2 233702448 intron variant T/G snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs1875263
rs1875263
7 1.000 2 233716976 intron variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2741012
rs2741012
6 1.000 2 233600317 upstream gene variant C/T snv 0.24 0.700 1.000 1 2015 2015
dbSNP: rs3755319
rs3755319
8 0.925 0.120 2 233758936 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015