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: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.070 1.000 7 2001 2016
dbSNP: rs113488022
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.040 1.000 4 2011 2018
dbSNP: rs121913377
rs121913377
BRAF
0.354 0.840 7 140753335 missense variant CA/AT;TT mnv
CUI: C0023418
Disease: leukemia
leukemia 		0.040 1.000 4 2011 2018
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2001 2006
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023418
Disease: leukemia
leukemia 		0.020 < 0.001 2 2012 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.030 1.000 3 2002 2006
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023418
Disease: leukemia
leukemia 		0.020 < 0.001 2 2012 2016
dbSNP: rs878854066
rs878854066
TP53
0.439 0.800 17 7676153 missense variant GG/AC mnv
CUI: C0023418
Disease: leukemia
leukemia 		0.020 < 0.001 2 2012 2016
dbSNP: rs25487
rs25487
XRCC1
0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71
CUI: C0023418
Disease: leukemia
leukemia 		0.030 1.000 3 2013 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2012 2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023418
Disease: leukemia
leukemia 		0.100 1.000 10 2006 2017
dbSNP: rs1799782
rs1799782
XRCC1
0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2013 2018
dbSNP: rs662
rs662
PON1
0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2014 2016
dbSNP: rs854560
rs854560
PON1
0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2012 2012
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C0023418
Disease: leukemia
leukemia 		0.020 1.000 2 2014 2014
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2014 2014
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2013 2013
dbSNP: rs1130409
rs1130409
APEX1
0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2018 2018
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2014 2014
dbSNP: rs2228001
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65
CUI: C0023418
Disease: leukemia
leukemia 		0.010 1.000 1 2015 2015