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: rs1319313254
rs1319313254
1 9 5050807 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1378379005
rs1378379005
1 19 12938723 missense variant C/G;T snv 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs147368353
rs147368353
1 19 12938729 missense variant C/G;T snv 6.3E-05; 5.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs1476891431
rs1476891431
MPL
1 1 43337895 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519802
rs1057519802
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs3733609
rs3733609
2 1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs12339666
rs12339666
3 0.925 0.080 9 5063296 intron variant G/T snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs17849241
rs17849241
3 0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 0.010 1.000 1 2009 2009
dbSNP: rs2201862
rs2201862
3 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs4495487
rs4495487
3 0.925 0.080 9 5072798 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs10974944
rs10974944
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.810 1.000 2 2009 2010
dbSNP: rs1057519721
rs1057519721
4 0.882 0.120 9 5078360 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520016
rs1057520016
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs556915505
rs556915505
5 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1057519819
rs1057519819
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs182123615
rs182123615
7 0.807 0.200 9 5070058 splice region variant T/C snv 3.6E-04 1.1E-03 0.010 1.000 1 2016 2016
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.020 1.000 2 2009 2017
dbSNP: rs12343867
rs12343867
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs368927897
rs368927897
9 0.790 0.240 9 5072541 missense variant G/A;T snv 2.8E-05; 6.4E-05 0.700 1.000 1 2007 2007
dbSNP: rs201478192
rs201478192
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.070 0.857 7 2006 2019
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs796065343
rs796065343
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.020 0.500 2 2006 2015
dbSNP: rs536289169
rs536289169
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015