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: rs1239681664
rs1239681664
ABCA1
0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs3092856
rs3092856
ATM
0.882 0.120 11 108289005 missense variant C/T snv 1.2E-02 2.2E-02
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2016 2016
dbSNP: rs755796482
rs755796482
ATXN2 ; SH2B3
1.000 0.080 12 111447512 missense variant G/A snv 4.1E-06 8.1E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2016 2016
dbSNP: rs111340708
rs111340708
ATXN2 ; SH2B3
0.925 0.080 12 111447548 intron variant TGGGGTGGGGTGGGG/-;TGGGG;TGGGGTGGGG;TGGGGTGGGGTGGGGTGGGG;TGGGGTGGGGTGGGGTGGGGTGGGG delins 0.52
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2016 2016
dbSNP: rs918140013
rs918140013
ATXN2 ; SH2B3
0.925 0.080 12 111447663 missense variant G/A snv 7.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 2 2012 2014
dbSNP: rs1250394819
rs1250394819
TMED7 ; TMED7-TICAM2 ; LOC101927100
0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs1483790387
rs1483790387
TMED7 ; TMED7-TICAM2
0.925 0.120 5 115625762 missense variant C/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
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: 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: rs1801133
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2014 2014
dbSNP: rs1060500091
rs1060500091
GATA2
0.882 0.120 3 128481887 missense variant A/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2008 2008
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2016 2016
dbSNP: rs1314838108
rs1314838108
ABL1
0.925 0.160 9 130854977 missense variant G/A snv 7.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 1.000 1 2015 2015
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 4 2006 2013
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 10 2002 2014
dbSNP: rs34549764
rs34549764
ABL1
1.000 0.080 9 130862953 missense variant A/G snv 2.6E-03 2.5E-03
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.010 < 0.001 1 2005 2005
dbSNP: rs121913455
rs121913455
ABL1
1.000 0.080 9 130862955 missense variant C/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 6 2003 2014
dbSNP: rs121913453
rs121913453
ABL1
1.000 0.080 9 130862962 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 8 2002 2014
dbSNP: rs121913458
rs121913458
ABL1
1.000 0.080 9 130862969 missense variant G/C;T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 6 2002 2014
dbSNP: rs121913461
rs121913461
ABL1
0.851 0.120 9 130862970 missense variant T/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 16 2002 2014
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 6 2002 2014
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 18 2001 2014
dbSNP: rs121913449
rs121913449
ABL1
1.000 0.080 9 130862977 missense variant A/T snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.700 1.000 10 2001 2014