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: rs10509586
rs10509586
5 1.000 10 89981680 intron variant G/T snv 7.1E-02 0.700 1.000 1 2014 2014
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: rs137852643
rs137852643
3 0.925 0.080 7 30609729 missense variant G/C snv 4.0E-06 0.010 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: rs1934951
rs1934951
4 0.925 0.160 10 95038791 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
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: rs3825172
rs3825172
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs502716
rs502716
5 1.000 20 945754 intergenic variant G/A snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs587777383
rs587777383
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
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: rs7554182
rs7554182
5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs7568498
rs7568498
5 1.000 2 161172602 intron variant T/G snv 0.11 0.700 1.000 1 2014 2014
dbSNP: rs7985891
rs7985891
5 1.000 13 93226778 non coding transcript exon variant A/G snv 3.7E-02 0.700 1.000 1 2014 2014
dbSNP: rs801350
rs801350
5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
dbSNP: rs801378
rs801378
5 1.000 2 194695273 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs9501753
rs9501753
5 1.000 6 221146 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs9636436
rs9636436
5 1.000 2 49270867 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs9827908
rs9827908
5 1.000 3 66395177 intron variant A/G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs924607
rs924607
7 0.851 0.120 5 609978 intron variant C/T snv 0.32 0.720 1.000 2 2015 2016
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12786200
rs12786200
3 1.000 0.120 11 92245852 intergenic variant C/T snv 0.22 0.700 1.000 1 2015 2015