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: rs587776849
rs587776849
CEBPA ; CEBPA-DT
1 1.000 0.040 19 33302200 frameshift variant -/CCGG delins 0.700 0
dbSNP: rs587784115
rs587784115
NSD1
2 0.925 0.080 5 177244271 splice donor variant G/A snv 0.700 0
dbSNP: rs587784170
rs587784170
NSD1
2 0.925 0.080 5 177282537 stop gained C/T snv 0.700 0
dbSNP: rs606231202
rs606231202
KRAS
1 1.000 0.040 12 25245355 inframe insertion -/CCA delins 0.700 0
dbSNP: rs730880471
rs730880471
KRAS
4 0.851 0.280 12 25225709 missense variant C/T snv 0.700 0
dbSNP: rs759380437
rs759380437
DNMT3A
2 0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs762890562
rs762890562
DDX41
2 0.925 0.040 5 177515944 stop gained -/CATC delins 8.7E-05 7.0E-05 0.700 0
dbSNP: rs771063992
rs771063992
DNAJC21
7 0.827 0.240 5 34937431 stop gained C/T snv 2.8E-05 2.8E-05 0.700 0
dbSNP: rs771174392
rs771174392
DNMT3A
3 0.925 0.200 2 25235779 missense variant T/C snv 0.700 0
dbSNP: rs794727176
rs794727176
NSD1
3 0.882 0.080 5 177269630 stop gained C/T snv 0.700 0
dbSNP: rs797046041
rs797046041
TERT
1 1.000 0.040 5 1282578 missense variant G/C snv 0.700 0
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 13 1987 2017
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 7 1987 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 7 1987 2016
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 6 1987 2014
dbSNP: rs17851045
rs17851045
KRAS
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 1.000 6 1987 2016
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 5 1987 2012
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 1991 1991
dbSNP: rs483352695
rs483352695
TP53
4 0.882 0.200 17 7674227 missense variant T/A;C;G snv 0.010 1.000 1 1991 1991
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.100 1.000 11 1998 2019
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.100 1.000 11 1998 2019
dbSNP: rs1057519748
rs1057519748
RUNX1
5 0.827 0.120 21 34859486 stop gained G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs121913488
rs121913488
FLT3
7 0.807 0.120 13 28018505 missense variant C/A;G;T snv 0.740 1.000 22 2001 2019
dbSNP: rs121909646
rs121909646
FLT3
3 0.882 0.120 13 28018504 missense variant T/A;G snv 0.700 1.000 17 2001 2014
dbSNP: rs121913487
rs121913487
FLT3
2 0.925 0.120 13 28018503 missense variant A/C;T snv 0.800 1.000 15 2001 2014