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: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.040 1.000 4 2014 2016
dbSNP: rs121913485
rs121913485
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2013
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: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.020 1.000 2 2009 2017
dbSNP: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.020 0.500 2 2006 2015
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519721
rs1057519721
4 0.882 0.120 9 5078360 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1057519802
rs1057519802
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519819
rs1057519819
6 0.851 0.240 15 66436750 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1057520016
rs1057520016
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2011 2011
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: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2006 2006
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: rs12343867
rs12343867
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs1476891431
rs1476891431
MPL
1 1 43337895 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2017 2017
dbSNP: rs796065343
rs796065343
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs148636776
rs148636776
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
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