Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519758
rs1057519758
1.000 0.080 9 130872153 missense variant T/G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 5 2004 2014
dbSNP: rs121913448
rs121913448
0.827 0.120 9 130862976 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs387906517
rs387906517
0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023418
Disease: leukemia
leukemia
Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs34549764
rs34549764
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
Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
0.100 0.882 17 2006 2019
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0005699
Disease: Blast Phase
Blast Phase
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.070 0.857 7 2006 2019
dbSNP: rs387906517
rs387906517
0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.730 1.000 4 2006 2013
dbSNP: rs121913452
rs121913452
0.851 0.080 9 130873027 missense variant T/A;C;G snv
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
0.010 1.000 1 2006 2006
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0677936
Disease: Refractory cancer
Refractory cancer
Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.050 0.800 5 2007 2015
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
Precursor Cell Lymphoblastic Leukemia Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2007 2012
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1057519773
rs1057519773
0.851 0.160 9 130872901 missense variant T/A;C;G snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.710 1.000 2 2008 2011
dbSNP: rs1057519773
rs1057519773
0.851 0.160 9 130872901 missense variant T/A;C;G snv
CUI: C0005699
Disease: Blast Phase
Blast Phase
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913448
rs121913448
0.827 0.120 9 130862976 missense variant G/A snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913448
rs121913448
0.827 0.120 9 130862976 missense variant G/A snv
Precursor Cell Lymphoblastic Leukemia Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913451
rs121913451
0.851 0.160 9 130872903 missense variant C/A;G snv
CUI: C0005699
Disease: Blast Phase
Blast Phase
Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs387906517
rs387906517
0.827 0.120 9 130862919 missense variant G/A snv
Precursor Cell Lymphoblastic Leukemia Lymphoma
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs387906517
rs387906517
0.827 0.120 9 130862919 missense variant G/A snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
Neoplasms 0.100 1.000 13 2009 2018
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.060 1.000 6 2009 2020
dbSNP: rs1057519771
rs1057519771
1.000 0.080 9 130872201 missense variant G/C snv
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
Neoplasms; Hemic and Lymphatic Diseases 0.730 1.000 4 2009 2019
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
Precursor B-cell lymphoblastic leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2019
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
0.020 1.000 2 2009 2010
dbSNP: rs121913459
rs121913459
0.672 0.160 9 130872896 missense variant C/T snv
Childhood Acute Lymphoblastic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2009 2010