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: rs10974944
rs10974944
4 0.878 0.143 9 5070831 intron variant C/G snp 0.26 0.810 1.000 2 2009 2010
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.800 0.969 159 2005 2018
dbSNP: rs1057519721
rs1057519721
2 1.000 0.107 9 5078360 missense variant A/G snp 0.700 1 2010 2010
dbSNP: rs1057519802
rs1057519802
2 5 150061765 missense variant A/C snp 0.700 1 2009 2009
dbSNP: rs1057520016
rs1057520016
1 9 5089726 stop gained C/A,T snp 0.700 1 2010 2010
dbSNP: rs121913485
rs121913485
11 0.784 0.321 4 1804372 missense variant A/G snp 0.700 1 2009 2009
dbSNP: rs12339666
rs12339666
1 9 5063296 intron variant G/T snp 0.34 0.700 1 2016 2016
dbSNP: rs2201862
rs2201862
1 3 168930251 intergenic variant T/C snp 0.62 0.700 1 2016 2016
dbSNP: rs368927897
rs368927897
1 9 5072541 missense variant G/A,T snp 2.8E-05; 6.4E-05 3.2E-05; 3.2E-05 0.700 1 2007 2007
dbSNP: rs199544087
rs199544087
1 4 1805761 missense variant G/A,C,T snp 1.5E-04; 4.0E-06; 8.1E-06 4.1E-04; 3.2E-05 0.700 0
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.050 1.000 5 2008 2018
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.030 1.000 3 2015 2017
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.010 1.000 1 2011 2011
dbSNP: rs121913514
rs121913514
KIT
9 0.784 0.214 4 54733174 stop gained T/A,G snp 0.010 1.000 1 2011 2011
dbSNP: rs121913616
rs121913616
MPL
6 0.821 0.107 1 43349337 missense variant TG/AA multinucleotide-polymorphism 0.010 1.000 1 2009 2009
dbSNP: rs121918464
rs121918464
15 0.756 0.321 12 112450406 missense variant G/A,C snp 0.010 1.000 1 2006 2006
dbSNP: rs12343867
rs12343867
5 0.846 0.143 9 5074189 intron variant T/C snp 0.26 0.010 1.000 1 2010 2010
dbSNP: rs17849241
rs17849241
3 0.923 0.071 17 78358688 missense variant G/C,T snp 4.1E-06; 2.1E-04 0.010 1.000 1 2010 2010
dbSNP: rs182123615
rs182123615
4 0.878 0.143 9 5070058 splice region variant T/C snp 3.6E-04 6.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs3733609
rs3733609
3 0.923 0.071 4 105269705 synonymous variant T/A,C snp 6.4E-06; 3.4E-02 0.11 0.010 1.000 1 2017 2017
dbSNP: rs557678853
rs557678853
2 1.000 0.071 9 130884080 missense variant C/T snp 0.010 1.000 1 2014 2014
dbSNP: rs796065343
rs796065343
7 0.821 0.071 1 36467833 missense variant G/A snp 0.010 1.000 1 2014 2014