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
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs9376092
LOC105378010
0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 10
rs12343867
INSL6 ; JAK2
0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
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
rs1057520016
JAK2 ; INSL6
0.851 0.080 9 5089726 missense variant C/A;T snv 5
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
rs318699
RGL3
0.882 0.080 19 11390564 intron variant A/G snv 0.73 3
rs111340708
ATXN2 ; SH2B3
0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52 2
rs121913454
ABL1
0.925 0.080 9 130874969 missense variant A/G snv 2
rs3808850
JAK2
0.925 0.080 9 4983311 upstream gene variant T/A;C snv 2
rs7046736
JAK2 ; INSL6
0.925 0.080 9 5015732 intron variant C/A snv 0.39 2
rs918140013
ATXN2 ; SH2B3
0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06 2
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs552479055
CASP7
1.000 0.040 10 113726306 missense variant C/T snv 4.0E-06 1
rs770166362
MPL
1.000 0.040 1 43349298 missense variant C/G snv 4.0E-06 7.0E-06 1
rs1343123940
MPL
0.925 0.080 1 43339292 frameshift variant T/- del 4.0E-06 2
rs28928907
MPL
0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 4
rs750046020
MPL
0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 6
rs562533120
HBS1L
0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 3
rs1188383936
F2
0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 102
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 25