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: 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: 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: rs2230724
rs2230724
JAK2 ; INSL6
0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2012 2012
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: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2013 2013
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: 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: rs4132601
rs4132601
IKZF1
0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs2239633
rs2239633
CEBPE
0.742 0.240 14 23119848 upstream gene variant G/A snv 0.38
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2015 2015
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: 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
dbSNP: rs2295080
rs2295080
MTOR
0.695 0.320 1 11262571 upstream gene variant G/C;T snv
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs767464424
rs767464424
CEBPZ
0.925 0.080 2 37222420 frameshift variant T/- delins 4.2E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs777017502
rs777017502
CEBPZ
0.925 0.080 2 37222420 missense variant T/C;G snv 4.2E-06; 4.2E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2016 2016
dbSNP: rs559063155
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs62527607
rs62527607
BAALC ; BAALC-AS2
0.827 0.160 8 103141321 non coding transcript exon variant G/T snv 0.14
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs8073069
rs8073069
BIRC5
0.807 0.200 17 78213692 upstream gene variant G/C snv 0.33
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 < 0.001 1 2018 2018
dbSNP: rs9904341
rs9904341
BIRC5
0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2018 2018
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: 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: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2019 2019