Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs59384377
INSL6 ; JAK2
1.000 0.080 9 5005034 intron variant A/T snv 0.26 1
rs12339666
INSL6 ; JAK2
0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23 5
rs121912473
JAK2 ; INSL6
0.925 0.080 9 5070026 missense variant AA/TT mnv 3
rs10974944
JAK2 ; INSL6
0.882 0.160 9 5070831 intron variant C/G snv 0.25 4
rs764634461
JAK2 ; INSL6
1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05 1
rs4495487
INSL6 ; JAK2
0.925 0.080 9 5072798 intron variant T/C snv 0.23 3
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs12343867
INSL6 ; JAK2
0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs12340895
INSL6 ; JAK2
1.000 0.080 9 5076691 intron variant C/A;G snv 1
rs1057519721
INSL6 ; JAK2
0.882 0.120 9 5078360 missense variant A/G snv 4
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv 5
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs121913520
KIT
1.000 0.080 4 54727443 missense variant G/A snv 4
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv 6
rs17849241
SOCS3 ; LOC101928674
0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 3
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs562015640
PTEN
0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19