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: 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: rs1057519748
rs1057519748
RUNX1
5 0.827 0.120 21 34859486 stop gained G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs387906553
rs387906553
ELANE
6 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs1800361
rs1800361
FANCC
1 1.000 0.040 9 95249215 missense variant G/A snv 4.9E-03 5.0E-03 0.010 1.000 1 2003 2003
dbSNP: rs762613037
rs762613037
SLC19A1 ; COL18A1
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1057520023
rs1057520023
FLT3
1 1.000 0.040 13 28018501 missense variant A/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.030 1.000 3 2001 2005
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 1.000 2 2001 2005
dbSNP: rs1057520024
rs1057520024
FLT3
1 1.000 0.040 13 28034147 missense variant T/C snv 4.0E-06; 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1057520043
rs1057520043
FLT3
1 1.000 0.040 13 28034148 missense variant A/C snv 0.700 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2005 2005
dbSNP: rs749281035
rs749281035
FLT3
1 1.000 0.040 13 28018485 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2005 2005