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: rs121913504
rs121913504
4 0.846 0.107 19 17837200 missense variant G/A snp 0.700 4 2010 2015
dbSNP: rs121913614
rs121913614
MPL
6 0.801 0.107 1 43349308 missense variant G/A snp 0.700 3 2008 2013
dbSNP: rs121913520
rs121913520
KIT
2 1.000 0.071 4 54727443 missense variant G/A snp 0.700 2 2009 2015
dbSNP: rs1057519752
rs1057519752
MPL
1 1.000 0.071 1 43349307 missense variant A/G,T snp 0.700 1 2011 2011
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.100 0.965 144 2005 2018
dbSNP: rs121913615
rs121913615
MPL
15 0.734 0.179 1 43349338 missense variant G/C,T snp 8.0E-06 0.060 1.000 6 2008 2014
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: rs10974944
rs10974944
4 0.878 0.143 9 5070831 intron variant C/G snp 0.26 0.020 1.000 2 2009 2014
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.020 1.000 2 2011 2013
dbSNP: rs121913616
rs121913616
MPL
6 0.821 0.107 1 43349337 missense variant TG/AA multinucleotide-polymorphism 0.020 1.000 2 2008 2009
dbSNP: rs121918462
rs121918462
7 0.784 0.286 12 112450398 missense variant C/T snp 0.020 1.000 2 2005 2015
dbSNP: rs121912473
rs121912473
3 0.923 0.071 9 5070026 missense variant AA/TT multinucleotide-polymorphism 0.010 1.000 1 2011 2011
dbSNP: rs121913502
rs121913502
15 0.715 0.321 15 90088702 missense variant C/A,T snp 3.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.010 1.000 1 2008 2008
dbSNP: rs12343867
rs12343867
5 0.846 0.143 9 5074189 intron variant T/C snp 0.26 0.010 1.000 1 2014 2014
dbSNP: rs17292650
rs17292650
MPL
2 0.923 0.071 1 43338136 missense variant G/T snp 3.5E-03 1.3E-02 0.010 1.000 1 2004 2004
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: rs1800562
rs1800562
175 0.463 0.714 6 26092913 missense variant G/A snp 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
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: rs3817672
rs3817672
8 0.821 0.250 3 196073940 missense variant C/T snp 0.45 0.42 0.010 1.000 1 2009 2009
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