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: 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: 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: rs148636776
rs148636776
ATXN2 ; SH2B3
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.020 0.500 2 2006 2015
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2006 2006
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: 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: rs1378379005
rs1378379005
CALR ; MIR6515
1 19 12938723 missense variant C/G;T snv 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs147368353
rs147368353
CALR ; MIR6515
1 19 12938729 missense variant C/G;T snv 6.3E-05; 5.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057519802
rs1057519802
CSF1R
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009
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: 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: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
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: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
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: 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: rs1476891431
rs1476891431
MPL
1 1 43337895 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913616
rs121913616
MPL
8 0.790 0.120 1 43349337 missense variant TG/AA mnv 0.020 1.000 2 2009 2017
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: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1319313254
rs1319313254
JAK2 ; INSL6
1 9 5050807 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016