Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519802
CSF1R
5 150061765 missense variant A/C snv 2
rs1319313254
JAK2 ; INSL6
9 5050807 missense variant C/T snv 4.0E-06 1
rs1378379005
CALR ; MIR6515
19 12938723 missense variant C/G;T snv 2.1E-05 1
rs147368353
MIR6515 ; CALR
19 12938729 missense variant C/G;T snv 6.3E-05; 5.8E-05 1
rs1476891431
MPL
1 43337895 missense variant C/T snv 1
rs1799945
LOC108783645 ; HFE
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 226
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs4880
SOD2
0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 131
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs8099917 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 60
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs12980275 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 23
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs121913485
FGFR3
0.716 0.400 4 1804372 missense variant A/G snv 18
rs16754
WT1
0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 15
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs536289169
GSTM1 ; GSTM2
0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 13