Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Leukaemia</span> arising in a JAK2 V617F</span>-negative clone is TP53 independent and shows better survival. 28542718

2017

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE In particular, gain-of-function mutations in the <i>JAK</i> genes, most frequently, V617F in the pseudokinase domain of JAK2, have been mapped in patients with blood disorders, including myeloproliferative neoplasms and leukemias. 29379470

2017

dbSNP: rs771138120
rs771138120
0.010 GeneticVariation BEFREE Absence of R24C mutation of the CDK4 gene in leukemias and solid tumors. 12731669

2003

dbSNP: rs766274360
rs766274360
0.010 GeneticVariation BEFREE Progression to secondary myelofibrosis/leukemia is influenced by exposure to cytoreductive agents, and caspase and BER polymorphisms {globally, CASP8 3'untranslated region [odds ratio (OR)=0.24; 95% confidence interval (CI), 0.08‑0.69], XRCC1 Arg194Trp [OR=3.58; 95% CI, 0.98‑13.01]; for essential thrombocythemia patients CASP9 Arg173His [OR=11.27; 95% CI, 1.13‑112.28], APEX1 Asp148Glu [OR=0.28; 95% CI, 0.74‑1.03], and XRCC1 Arg194Trp [OR=6.60; 95% CI, 1.60‑27.06]}. 30320340

2018

dbSNP: rs765669662
rs765669662
0.010 GeneticVariation BEFREE In genomic DNAs prepared from 105 leukemia (n = 54) and non-leukemia (n = 51) specimens, PCR amplifications and direct sequencing of exon 3 identified a high-frequency G to A single nucleotide polymorphism at position 80 that resulted in a change of arginine-27 to histidine-27. 11705857

2001

dbSNP: rs765669662
rs765669662
0.010 GeneticVariation BEFREE The allelic frequencies of G/A80 were nearly identical for the non-leukemia (42.2% CGC and 57.8% CAC) and leukemia (40.7% CGC and 59.3% CAC) genomic DNAs. 11705857

2001

dbSNP: rs762613037
rs762613037
0.010 GeneticVariation BEFREE The bone marrow and/or peripheral blood from 126 patients with acute myeloid leukemia (AML), 57 with chronic myeloid leukemia (CML), 91 with acute lymphocytic leukemia (ALL), and 178 normal controls were analyzed using a polymerase chain reaction-restriction fragment length polymorphism (RFLP) assay to evaluate the association of the endostatin polymorphisms D104N (nucleotide 4349G --> A) with leukemia. 12693719

2003

dbSNP: rs75612255
rs75612255
APC
0.010 GeneticVariation BEFREE The luciferase reporter assay showed that among the six SNPs tested, the rs75612255 C allele and rs113017087 C allele in promoter 1A as well as the rs138386816 T allele and rs115658307 T allele in promoter 1B significantly increased luciferase activity in the human erythromyeloblastoid leukaemia cell line K562. 28105931

2016

dbSNP: rs754944509
rs754944509
0.010 GeneticVariation BEFREE Thus, the aim of this study was to investigate the effects of Shb knockout on the development of leukemia in three additional models, that is, colony stimulating factor 3 receptor-T618I-induced neutrophilic leukemia, p190 Breakpoint cluster region-cAbl oncogene 1 tyrosine kinase-induced B-cell leukemia, and G12D-Kras-induced T-cell leukemia/thymic lymphoma. 29792386

2018

dbSNP: rs754894156
rs754894156
0.010 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839

2012

dbSNP: rs753000469
rs753000469
0.010 GeneticVariation BEFREE Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. 28766925

2017

dbSNP: rs749140677
rs749140677
VDR
0.010 GeneticVariation BEFREE Recipient MTHFR polymorphisms (C677T) were associated with acute GvHD (P=0.03), and recipient VDR TaqI with TRM and overall survival (P=0.006 and P=0.04, respectively).Genetic factors that interfere with drug metabolisms are associated with treatment-related toxicities, GvHD and survival after HLA-identical HSCT in patients with leukemia and should be investigated prospectively. 19005482

2009

dbSNP: rs748843032
rs748843032
0.030 GeneticVariation BEFREE Ponatinib-Induced Graft-versus-Host Disease/Graft-versus-Leukemia Effect in a Patient with Philadelphia-Positive Acute Lymphoblastic Leukemia without the T315I Mutation Relapsing after Allogeneic Transplant. 28810255

2017

dbSNP: rs748843032
rs748843032
0.030 GeneticVariation BEFREE KW-2449, a multikinase inhibitor of FLT3, ABL, ABL-T315I, and Aurora kinase, is under investigation to treat leukemia patients. 19541823

2009

dbSNP: rs748843032
rs748843032
0.030 GeneticVariation BEFREE Given the fact that all AKIs fail to inhibit BCR/ABL harboring the 'gatekeeper' mutation T315I, we investigated the effects of AKIs in combination with the allosteric inhibitor GNF2 in Ph + leukemia. 22985168

2012

dbSNP: rs74315450
rs74315450
0.020 GeneticVariation BEFREE The first, carrying a missense R174Q mutation, which acts as a dominant-negative mutant, is associated with thrombocytopenia and leukemia, and the second, carrying a monoallelic gene deletion inducing a haploinsufficiency, presents only as thrombocytopenia. 25490895

2015

dbSNP: rs74315450
rs74315450
0.020 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839

2012

dbSNP: rs727503094
rs727503094
0.010 GeneticVariation BEFREE We successfully established a mouse model of human leukemia by transplanting bone marrow cells co-transfected with the K-ras (G12D) mutation and AML1/ETO fusion protein. 24480914

2014

dbSNP: rs7090445
rs7090445
0.010 GeneticVariation BEFREE Genetic analyses revealed a novel heterozygous mutation in the ETS domain of <i>ETV6</i> (c.1136T>C, p.Leu379Pro) along with absence of heterozygosity of chromosome (10)(q21.2q21.3), yielding a biallelic leukaemia risk allele in <i>ARID5B</i> (rs7090445-C). 31704777

2019

dbSNP: rs6964823
rs6964823
0.010 GeneticVariation BEFREE It was found that the variants rs10740055 of ARID5B and rs6964823 of IKZF1 act individually and additively as risk factors in the development of leukemia in the populations of Jammu and Kashmir in Northern India. 30810385

2019

dbSNP: rs662
rs662
0.010 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839

2012

dbSNP: rs662
rs662
0.010 GeneticVariation BEFREE The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations. 22976839

2012

dbSNP: rs6413463
rs6413463
0.700 GeneticVariation UNIPROT

dbSNP: rs61754966
rs61754966
NBN
0.030 GeneticVariation BEFREE Among these, an association with cancer was found most frequently for 657del5 (in leukemia/lymphoma and breast cancer) and I171V (in leukemia, breast, head and neck and colorectal cancers); however, other studies gave contradictory results. 18606567

2008

dbSNP: rs61754966
rs61754966
NBN
0.030 GeneticVariation BEFREE Positive associations have also been reported for leukaemia and larynx cancer suggesting that I171V could be a more general susceptibility factor for malignancies. 18049891

2008