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: rs17292650
rs17292650
MPL
3 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.100 0.974 269 2005 2020
dbSNP: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.040 0.750 4 2005 2015
dbSNP: rs201478192
rs201478192
12 0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 0.070 1.000 7 2006 2019
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.100 1.000 10 2008 2018
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.710 1.000 4 2008 2013
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.020 1.000 2 2008 2009
dbSNP: rs10974944
rs10974944
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.040 1.000 4 2009 2014
dbSNP: rs121913520
rs121913520
KIT
4 1.000 0.080 4 54727443 missense variant G/A snv 0.700 1.000 2 2009 2014
dbSNP: rs1259653415
rs1259653415
3 1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs121913504
rs121913504
3 0.882 0.080 19 17837200 missense variant G/A snv 0.700 1.000 4 2010 2014
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.040 1.000 4 2011 2017
dbSNP: rs1057519752
rs1057519752
MPL
1 1.000 0.080 1 43349307 missense variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1057520016
rs1057520016
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs121912473
rs121912473
3 0.925 0.080 9 5070026 missense variant AA/TT mnv 0.010 1.000 1 2011 2011
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: rs12343867
rs12343867
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.050 1.000 5 2012 2017
dbSNP: rs1057519721
rs1057519721
4 0.882 0.120 9 5078360 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs12340895
rs12340895
1 1.000 0.080 9 5076691 intron variant C/A;G snv 0.010 1.000 1 2012 2012
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: rs529311209
rs529311209
2 0.925 0.120 22 40409754 missense variant G/A;C;T snv 3.3E-05; 8.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs12342421
rs12342421
5 0.851 0.080 9 5065750 intron variant G/C snv 0.23 0.020 1.000 2 2013 2014
dbSNP: rs796065343
rs796065343
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013