Disease: Myeloproliferative disease
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
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
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
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
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
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
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs796065343
CSF3R
0.776 0.080 1 36467833 missense variant G/A snv 12
rs12343867
INSL6 ; JAK2
0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv 6
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv 5
rs556915505
MECOM
0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 5
rs1057519721
INSL6 ; JAK2
0.882 0.120 9 5078360 missense variant A/G snv 4
rs10974944
JAK2 ; INSL6
0.882 0.160 9 5070831 intron variant C/G snv 0.25 4
rs12339666
INSL6 ; JAK2
0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs17849241
SOCS3 ; LOC101928674
0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 3
rs2201862 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 3
rs4495487
INSL6 ; JAK2
0.925 0.080 9 5072798 intron variant T/C snv 0.23 3
rs3733609
TET2 ; TET2-AS1
1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 2