Source: BEFREE

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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.040 1.000 4 2002 2018
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.030 1.000 3 2010 2016
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.030 1.000 3 2005 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 1.000 2 2007 2012
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1057519766
rs1057519766
FLT3
0.851 0.080 13 28028203 missense variant G/C;T snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs1137101
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs11978267
rs11978267
IKZF1
0.763 0.240 7 50398606 intron variant A/G snv 0.25
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs121918464
rs121918464
PTPN11
0.708 0.440 12 112450406 missense variant G/A;C snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs1239681664
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs1325757098
rs1325757098
TAT ; TAT-AS1
0.827 0.160 16 71576223 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs1470755915
rs1470755915
RUNX1T1
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2011 2011
dbSNP: rs1532268
rs1532268
MTRR
0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1799929
rs1799929
NAT2
0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs1801131
rs1801131
MTHFR
0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs1801280
rs1801280
NAT2
0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016