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
rs3184504
SH2B3 ; ATXN2
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 92
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs28934578
TP53
0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs121912656
TP53
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 28
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
rs121913502
IDH2
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 19
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
rs121913614
MPL
0.790 0.120 1 43349308 missense variant G/A snv 7
rs879255237
VPS45
0.807 0.160 1 150077763 missense variant C/A snv 7
rs12342421
JAK2 ; INSL6
0.851 0.080 9 5065750 intron variant G/C snv 0.23 5
rs146249964
MPL
0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 5
rs10974944
JAK2 ; INSL6
0.882 0.160 9 5070831 intron variant C/G snv 0.25 4
rs1131691903
VPS45
0.882 0.160 1 150093558 missense variant C/T snv 4
rs377467108
EZH2
0.882 0.120 7 148827254 missense variant C/A;T snv 6.4E-05 3
rs10974947
INSL6 ; JAK2
0.882 0.080 9 5072846 intron variant G/A snv 0.23 3
rs10815148
JAK2 ; INSL6
0.882 0.080 9 5057284 intron variant T/A snv 0.33 3
rs318699
RGL3
0.882 0.080 19 11390564 intron variant A/G snv 0.73 3
rs879255268
SRC
0.925 0.040 20 37403347 missense variant G/A snv 3
rs1131691026
TP53
0.925 0.160 17 7675174 stop gained C/T snv 3
rs4858647 0.925 0.080 3 24749884 intron variant C/A;G;T snv 2
rs1555760738
CALR
0.925 0.040 19 12943751 splice donor variant CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- delins 2
rs121913505
KIT
0.925 0.080 4 54695598 missense variant G/A snv 2.0E-05 2