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: 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: 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: rs10931910
rs10931910
AOX1
0.925 0.040 2 200659013 intron variant A/G;T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2014 2014
dbSNP: rs1470755915
rs1470755915
RUNX1T1
0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2011 2011
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2016 2016
dbSNP: rs1979277
rs1979277
SHMT1
0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 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: rs3745274
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2011 2011
dbSNP: rs4246215
rs4246215
FEN1 ; FADS2
0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2016 2016
dbSNP: rs927698341
rs927698341
RUNX1T1
0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05
CUI: C0023418
Disease: leukemia
leukemia 		0.010 < 0.001 1 2011 2011
dbSNP: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.100 1.000 18 2004 2018
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: 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: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.050 1.000 5 2007 2010
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: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.040 1.000 4 2007 2018
dbSNP: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C0023418
Disease: leukemia
leukemia 		0.040 1.000 4 2007 2018
dbSNP: rs121913514
rs121913514
KIT
0.763 0.240 4 54733174 missense variant T/A;G snv
CUI: C0023418
Disease: leukemia
leukemia 		0.030 1.000 3 2011 2019
dbSNP: rs1360131632
rs1360131632
STAT5A
0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.030 1.000 3 2004 2018
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: 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: rs61754966
rs61754966
NBN
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0023418
Disease: leukemia
leukemia 		0.030 1.000 3 2008 2013
dbSNP: rs748843032
rs748843032
MTTP
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		0.030 1.000 3 2009 2017