Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913504
JAK3
0.882 0.080 19 17837200 missense variant G/A snv 3
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv 25
rs397507510
PTPN11
0.776 0.280 12 112450361 missense variant G/A;C;T snv 8
rs529311209
SGSM3
0.925 0.120 22 40409754 missense variant G/A;C;T snv 3.3E-05; 8.2E-06 2
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1441084781
TLR4
1.000 0.080 9 117712543 missense variant G/A;T snv 4.0E-06 1
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23 5
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs17849241
SOCS3 ; LOC101928674
0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 3
rs12339666
INSL6 ; JAK2
0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs17292650
MPL
0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 3
rs727503094
LRRC56 ; HRAS
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs3733609
TET2 ; TET2-AS1
1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 2
rs16754
WT1
0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 15
rs12343867
INSL6 ; JAK2
0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs1057519819
MAP2K1
0.851 0.240 15 66436750 missense variant T/C snv 6
rs556915505
MECOM
0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 5
rs1259653415
TFRC
1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 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
rs764634461
JAK2 ; INSL6
1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05 1
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8