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: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 0.667 3 2014 2019
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 1.000 3 2015 2018
dbSNP: rs3824662
rs3824662
GATA3
0.752 0.320 10 8062245 intron variant C/A;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 1.000 3 2013 2017
dbSNP: rs56149945
rs56149945
NR3C1
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 0.667 3 2005 2013
dbSNP: rs7088318
rs7088318
PIP4K2A
0.851 0.120 10 22564019 intron variant C/A snv 0.55
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 0.667 3 2013 2016
dbSNP: rs924607
rs924607
LOC100996325 ; LOC105374608
0.851 0.120 5 609978 intron variant C/T snv 0.32
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 1.000 3 2016 2019
dbSNP: rs1039659576
rs1039659576
MTR
0.689 0.520 1 236803473 missense variant A/G snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2013
dbSNP: rs10519612
rs10519612
IL15
0.882 0.120 4 141732548 intron variant A/C snv 0.10
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2010 2015
dbSNP: rs10740055
rs10740055
ARID5B
0.790 0.240 10 61958720 intron variant C/A snv 0.49
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2010 2014
dbSNP: rs1127354
rs1127354
ITPA
0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2010 2015
dbSNP: rs1137101
rs1137101
LEPR
0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 0.500 2 2004 2011
dbSNP: rs11545078
rs11545078
GGH
0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2012 2015
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2010
dbSNP: rs1275561861
rs1275561861
HLA-A
0.672 0.360 6 29944350 missense variant G/A snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2002 2013
dbSNP: rs1448674651
rs1448674651
TYMS ; ENOSF1
0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2012
dbSNP: rs17007695
rs17007695 		0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2010 2015
dbSNP: rs1800460
rs1800460
TPMT
0.807 0.320 6 18138997 missense variant C/T snv 2.8E-02 2.6E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2009 2011
dbSNP: rs1801265
rs1801265
DPYD
0.763 0.280 1 97883329 missense variant A/G snv 0.28
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2016 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2011 2014
dbSNP: rs1805794
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2011 2015
dbSNP: rs1979277
rs1979277
SHMT1
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2012 2016
dbSNP: rs2236225
rs2236225
MTHFD1
0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2012 2013
dbSNP: rs34767364
rs34767364
NBN
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2001 2006
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 1.000 2 2014 2014