Disease: Juvenile Myelomonocytic Leukemia
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
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs121918462
PTPN11
0.742 0.320 12 112450398 missense variant C/T snv 13
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 8