Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv 306
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25
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
rs766642690
MPL
1.000 0.080 1 43352635 missense variant T/C;G snv 4.0E-06 1
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv 51
rs201478192
KIDINS220
0.790 0.200 2 8731667 missense variant C/A snv 2.4E-04 2.6E-04 12
rs780178275
VHL
0.851 0.200 3 10146586 missense variant C/T snv 8.0E-06 7
rs2201862 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 3
rs4073
CXCL8
0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs361525
TNF
0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 62
rs9376092
LOC105378010
0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 10
rs562533120
HBS1L
0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 3
rs777342222
EGFR
1.000 0.080 7 55155925 missense variant T/C snv 4.0E-06 1
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
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
rs121912473
JAK2 ; INSL6
0.925 0.080 9 5070026 missense variant AA/TT mnv 3
rs12339666
INSL6 ; JAK2
0.925 0.080 9 5063296 intron variant G/T snv 0.34 3
rs4495487
INSL6 ; JAK2
0.925 0.080 9 5072798 intron variant T/C snv 0.23 3
rs1200469268
ABCA1
0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 2
rs3808850
JAK2
0.925 0.080 9 4983311 upstream gene variant T/A;C snv 2