Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 23676790 2013
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Ponatinib is a pan-BCR-ABL kinase inhibitor: MD simulations and SIE study. 24236021 2013
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Concomitant t(3;3)(q21;q26), trisomy 19, and E255V mutation associated with imatinib mesylate resistance in chronic myelogenous leukemia. 19264234 2009
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Conformational disturbance in Abl kinase upon mutation and deregulation. 19164531 2009
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. 14745431 2004
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. 12623848 2003
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR BCR-ABL gene mutations in relation to clinical resistance of Philadelphia-chromosome-positive leukaemia to STI571: a prospective study. 11853795 2002
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. 12399961 2002
dbSNP: rs121913449
rs121913449
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0023473
Disease:
Myeloid Leukemia, Chronic
T 0.700 GeneticVariation CLINVAR Roots of clinical resistance to STI-571 cancer therapy. 11569495 2001