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: rs121913459
rs121913459
ABL1
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.800 0.943 85 2001 2020
dbSNP: rs121913452
rs121913452
ABL1
0.851 0.080 9 130873027 missense variant T/A;C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.740 1.000 4 2003 2014
dbSNP: rs1057519771
rs1057519771
ABL1
1.000 0.080 9 130872201 missense variant G/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.730 1.000 3 2009 2019
dbSNP: rs121913448
rs121913448
ABL1
0.827 0.120 9 130862976 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.730 1.000 3 2001 2014
dbSNP: rs387906517
rs387906517
ABL1
0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.730 1.000 3 2006 2013
dbSNP: rs121913460
rs121913460
ABL1
0.925 0.080 9 130862971 missense variant A/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.720 1.000 2 2002 2014
dbSNP: rs1057519773
rs1057519773
ABL1
0.851 0.160 9 130872901 missense variant T/A;C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.710 1.000 1 2008 2011
dbSNP: rs121913451
rs121913451
ABL1
0.851 0.160 9 130872903 missense variant C/A;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.710 1.000 1 2002 2014
dbSNP: rs121913454
rs121913454
ABL1
0.925 0.080 9 130874969 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.710 1.000 1 2002 2016
dbSNP: rs121913456
rs121913456
ABL1
1.000 0.080 9 130862943 missense variant A/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.710 1.000 1 2002 2014
dbSNP: rs121913457
rs121913457
ABL1
1.000 0.080 9 130873004 missense variant T/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.710 1.000 1 2002 2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 0.889 18 2008 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 0.917 12 2003 2019
dbSNP: rs748843032
rs748843032
MTTP
0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.100 0.917 12 2006 2018
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.080 0.875 8 2011 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.070 0.857 7 2012 2019
dbSNP: rs1360131632
rs1360131632
STAT5A
0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 1.000 4 2012 2018
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 0.750 4 2014 2017
dbSNP: rs2231142
rs2231142
ABCG2
0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.040 1.000 4 2013 2018
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.030 1.000 3 2010 2016
dbSNP: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 1.000 2 2014 2016
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 1.000 2 2014 2016
dbSNP: rs1131691014
rs1131691014
TP53
0.439 0.800 17 7676154 frameshift variant -/C ins
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 1.000 2 2014 2016
dbSNP: rs137852975
rs137852975
BSCL2 ; HNRNPUL2-BSCL2
0.851 0.240 11 62692671 stop gained C/A snv 2.0E-05 1.4E-05
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 1.000 2 2007 2016
dbSNP: rs1487152821
rs1487152821
COL11A2
1.000 0.080 6 33180274 missense variant G/A snv 7.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 1.000 2 2015 2015