Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519745
rs1057519745
WT1
1 1.000 0.040 11 32396363 frameshift variant -/ACCGTACA ins 0.700 1.000 6 2014 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs1057519744
rs1057519744
NPM1
1 1.000 0.040 5 171410542 frameshift variant -/CATG;CCTG;TCAG;TCTG ins 0.700 1.000 1 2009 2009
dbSNP: rs137852733
rs137852733
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302197 frameshift variant -/G ins 0.700 0
dbSNP: rs587776710
rs587776710
ETV6
1 1.000 0.040 12 11890994 protein altering variant -/GGG ins 0.700 0
dbSNP: rs1057519709
rs1057519709
KIT
2 0.925 0.080 4 54733154 missense variant GA/AT mnv 0.700 1.000 2 2009 2013
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 < 0.001 2 2012 2016
dbSNP: rs1057519763
rs1057519763
FLT3
1 1.000 0.040 13 28018504 missense variant TC/AA mnv 0.700 1.000 1 2012 2012
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2014 2014
dbSNP: rs121913486
rs121913486
FLT3
1 1.000 0.040 13 28018503 inframe deletion ATC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1060502121
rs1060502121
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302225 frameshift variant TGTCG/- del 0.700 0
dbSNP: rs1178981336
rs1178981336
C9orf43
2 1.000 0.040 9 113424228 frameshift variant -/G delins 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913490
rs121913490
FLT3
1 1.000 0.040 13 28018498 inframe deletion GAT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs767464424
rs767464424
CEBPZ
3 0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs137852728
rs137852728
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302347 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs137852730
rs137852730
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302274 frameshift variant G/- delins 0.700 0
dbSNP: rs137852731
rs137852731
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302213 frameshift variant -/TAGG delins 0.700 0
dbSNP: rs137852732
rs137852732
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302095 frameshift variant -/CA delins 0.700 0
dbSNP: rs1554138188
rs1554138188
NPM1
1 1.000 0.040 5 171410541 frameshift variant -/CATG;CGTG delins 0.700 0
dbSNP: rs1554138189
rs1554138189
NPM1
1 1.000 0.040 5 171410540 frameshift variant -/CCTG delins 0.700 0
dbSNP: rs1555741948
rs1555741948
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33301423 inframe insertion -/TTCCACCCGCTTGCGCAGGCGGTCATTGTCACTGGTCAGCTCCAGCACCTTCTGCTG delins 0.700 0
dbSNP: rs1555741967
rs1555741967
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33301463 inframe insertion -/GCTCCAGCACCTTCTGCTGCGTCTCCA delins 0.700 0
dbSNP: rs1555742213
rs1555742213
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302076 frameshift variant GGGCGCGC/- delins 0.700 0
dbSNP: rs1555742295
rs1555742295
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302295 frameshift variant -/G delins 0.700 0
dbSNP: rs1561878500
rs1561878500
NPM1
1 1.000 0.040 5 171410549 frameshift variant GGAGGAA/CCCTGGCTAGG delins 0.700 0