Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28931590
rs28931590
CEBPA ; CEBPA-DT
1.000 0.040 19 33302164 missense variant T/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.800 1.000 5 2001 2013
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.030 1.000 3 2001 2005
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.020 1.000 2 2001 2005
dbSNP: rs387906553
rs387906553
ELANE
0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2002 2002
dbSNP: rs121913232
rs121913232
FLT3
0.925 0.120 13 28018500 missense variant G/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 9 2003 2014
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.080 0.875 8 2003 2019
dbSNP: rs1800361
rs1800361
FANCC
1.000 0.040 9 95249215 missense variant G/A snv 4.9E-03 5.0E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2003 2003
dbSNP: rs762613037
rs762613037
SLC19A1 ; COL18A1
0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2003 2003
dbSNP: rs1057520023
rs1057520023
FLT3
1.000 0.040 13 28018501 missense variant A/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2004 2004
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.900 0.966 29 2005 2019
dbSNP: rs1057519726
rs1057519726
FLT3
1.000 0.040 13 28018502 missense variant T/A;C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 9 2005 2013
dbSNP: rs376588714
rs376588714
FLT3
1.000 0.040 13 28018483 missense variant T/C snv 2.4E-05 1.4E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.710 1.000 4 2005 2014
dbSNP: rs754921650
rs754921650
SETD2
1.000 0.040 3 47120446 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2005 2014
dbSNP: rs1057520024
rs1057520024
FLT3
1.000 0.040 13 28034147 missense variant T/C snv 4.0E-06; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2005 2005
dbSNP: rs1057520043
rs1057520043
FLT3
1.000 0.040 13 28034148 missense variant A/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2005 2005
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2005 2005
dbSNP: rs35201683
rs35201683
HFE
0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2005 2005
dbSNP: rs749281035
rs749281035
FLT3
1.000 0.040 13 28018485 missense variant G/A;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2005 2005
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2005 2005
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
0.807 0.240 6 26091479 stop gained G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2005 2005
dbSNP: rs991132188
rs991132188
FLT3
1.000 0.040 13 28018492 missense variant T/C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2005 2005
dbSNP: rs121913514
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.750 1.000 6 2006 2013
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.060 0.833 6 2006 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.050 0.800 5 2006 2019