Disease: Primary Myelofibrosis
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
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv 11
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23 5
rs10815148
JAK2 ; INSL6
0.882 0.080 9 5057284 intron variant T/A snv 0.33 3
rs10974947
INSL6 ; JAK2
0.882 0.080 9 5072846 intron variant G/A snv 0.23 3
rs318699
RGL3
0.882 0.080 19 11390564 intron variant A/G snv 0.73 3