Source: ALL
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: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.070 1.000 7 2008 2019
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.030 1.000 3 2011 2017
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.020 1.000 2 2009 2017
dbSNP: rs1476891431
rs1476891431
MPL
1 1 43337895 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs536289169
rs536289169
GSTM1 ; GSTM2
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs201478192
rs201478192
KIDINS220
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: 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: rs556915505
rs556915505
MECOM
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: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.700 1.000 3 2009 2013
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: rs3733609
rs3733609
TET2 ; TET2-AS1
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: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.040 1.000 4 2014 2016
dbSNP: rs1057519802
rs1057519802
CSF1R
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2004 2004
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.800 0.970 263 2005 2019
dbSNP: rs10974944
rs10974944
JAK2 ; INSL6
4 0.882 0.160 9 5070831 intron variant C/G snv 0.25 0.810 1.000 2 2009 2010
dbSNP: rs1057519721
rs1057519721
JAK2 ; INSL6
4 0.882 0.120 9 5078360 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
5 0.851 0.080 9 5089726 missense variant C/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs12339666
rs12339666
JAK2 ; INSL6
3 0.925 0.080 9 5063296 intron variant G/T snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs12343867
rs12343867
JAK2 ; INSL6
9 0.790 0.200 9 5074189 intron variant T/C snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs1319313254
rs1319313254
JAK2 ; INSL6
1 9 5050807 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016