Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
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
rs267606870
IDH2
0.763 0.280 15 90088703 missense variant G/A;C snv 11
rs1057519753
JAK1
0.763 0.120 1 64846664 missense variant C/A snv 9
rs121913616
MPL
0.790 0.120 1 43349337 missense variant TG/AA mnv 8
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 7
rs121912473
JAK2 ; INSL6
0.925 0.080 9 5070026 missense variant AA/TT mnv 3
rs17849241
SOCS3 ; LOC101928674
0.925 0.080 17 78358688 missense variant G/C;T snv 4.1E-06; 2.1E-04 3
rs562533120
HBS1L
0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 3
rs1253570532
RUNX1
0.925 0.080 21 34792289 missense variant G/A snv 7.0E-06 2
rs3808850
JAK2
0.925 0.080 9 4983311 upstream gene variant T/A;C snv 2
rs754190776
HBG2
0.925 0.080 11 5253350 missense variant G/A snv 8.0E-06 2
rs772889171
RUNX1
0.925 0.080 21 34834487 missense variant G/A snv 4.0E-06 2
rs766642690
MPL
1.000 0.080 1 43352635 missense variant T/C;G snv 4.0E-06 1
rs773475680
ABL1
1.000 0.080 9 130884139 missense variant C/T snv 4.0E-06 1
rs777342222
EGFR
1.000 0.080 7 55155925 missense variant T/C snv 4.0E-06 1
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs775387828
NFE2
0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06 7
rs1200469268
ABCA1
0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 2
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23 5