Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9904341
rs9904341
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE In conclusion, the SNP of rs9904341C/G in survivin may be correlated with the risk of acute leukemia, and compared with C/C genotype, patients with C/G or G/G may have a decreased risk of acute leukemia. 29456699

2018

dbSNP: rs927698341
rs927698341
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Here, we aimed to evaluate the association between genotype or allele of CYP2B6 516G>T SNP and acute leukemia and myelodysplastic syndrome (MDS). 20878158

2011

dbSNP: rs8073069
rs8073069
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE In survivin, rs8073069C/G may have no correlation with the risk of acute leukemia. 29456699

2018

dbSNP: rs80338880
rs80338880
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). 15863206

2005

dbSNP: rs797045145
rs797045145
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). 15863206

2005

dbSNP: rs780246573
rs780246573
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE We studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C). 15863206

2005

dbSNP: rs777017502
rs777017502
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Three out of 14 (21.4 %) C57BL/6J mice transplanted with FLT3-N676K</span>-transduced primary hematopoietic progenitor cells developed acute leukemia (latency of 68, 77, and 273 days), while no hematological malignancy was observed in the control groups including FLT3-ITD. 26891877

2016

dbSNP: rs77375493
rs77375493
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation BEFREE JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia. 21658659

2011

dbSNP: rs77375493
rs77375493
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation BEFREE JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome-negative CML, and megakaryocytic leukemia. 16037387

2005

dbSNP: rs77375493
rs77375493
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.030 GeneticVariation BEFREE A high JAK2(V617F) allele burden was correlated with the transformation to myelofibrosis (p<0.0001), but not with the transformation to acute leukemia. 22818858

2013

dbSNP: rs767464424
rs767464424
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Three out of 14 (21.4 %) C57BL/6J mice transplanted with FLT3-N676K</span>-transduced primary hematopoietic progenitor cells developed acute leukemia (latency of 68, 77, and 273 days), while no hematological malignancy was observed in the control groups including FLT3-ITD. 26891877

2016

dbSNP: rs759834365
rs759834365
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE The BDNF Val66Met polymorphism may contribute to development of depressive symptomatology in patients undergoing stressful life events, such as diagnosis of acute leukemia and preparation for HSCT. 22652301

2013

dbSNP: rs751689316
rs751689316
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Collaboration between AML1-D171N and Evi1 was confirmed by a BMT model where coexpression of AML1-D171N and Evi1 induced acute leukemia of the same phenotype with much shorter latencies. 18192504

2008

dbSNP: rs6265
rs6265
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE The BDNF Val66Met polymorphism may contribute to development of depressive symptomatology in patients undergoing stressful life events, such as diagnosis of acute leukemia and preparation for HSCT. 22652301

2013

dbSNP: rs62527607
rs62527607
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Evaluation of rs62527607 [GT] single nucleotide polymorphism located in BAALC gene in children with acute leukemia using mismatch PCR-RFLP. 27372260

2017

dbSNP: rs562015640
rs562015640
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Thus, Ptpn11(E76K) mutation has non-lineage-specific effects on malignant transformation of hematopoietic cells and initiates acute leukemias at various stages of hematopoiesis. 21930766

2011

dbSNP: rs559063155
rs559063155
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Patient samples showed SF3B1 K700E mutations within the ptDNA of 4 patients with acute leukemia and 3 with myelodysplastic syndrome who were known to harbor this mutation. 28615231

2017

dbSNP: rs4986791
rs4986791
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE We analyzed 154 patients after allogeneic HSCT for acute leukemia for TLR4 gene variants 1063A/G (D299G) and 1363C/T (T399I) with their respective donors, and correlated the results with the incidence of invasive aspergillosis (IA) infection after transplant. 23890253

2013

dbSNP: rs4986790
rs4986790
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE We analyzed 154 patients after allogeneic HSCT for acute leukemia for TLR4 gene variants 1063A/G (D299G) and 1363C/T (T399I) with their respective donors, and correlated the results with the incidence of invasive aspergillosis (IA) infection after transplant. 23890253

2013

dbSNP: rs4132601
rs4132601
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE For rs4132601 polymorphism, significantly increased AL risk was observed in all genetic models (the association was still significant when the p value was Bonferroni adjusted to 0.025). 25423013

2014

dbSNP: rs397514606
rs397514606
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055

2008

dbSNP: rs397507444
rs397507444
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.020 GeneticVariation BEFREE The MTHFR C677T and A1298C polymorphisms are not significant risk factors in adult acute leukemia in the Korean population. 17970089

2007

dbSNP: rs397507444
rs397507444
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.020 GeneticVariation BEFREE This study tested the hypothesis that maternal folic acid supplementation before or during pregnancy reduces AL risk, accounting for the SNPs rs1801133 (C677T) and rs1801131 (A1298C) in MTHFR and rs1801394 (A66G) and rs1532268 (C524T) in MTRR, assumed to modify folate metabolism. 22706675

2012

dbSNP: rs387906659
rs387906659
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE This study demonstrated that the AKT1 E17K mutation occurs in breast cancers at a low frequency, and that it is rare in other common cancers, including colorectal, lung, gastric and hepatocellular carcinomas and acute leukaemias. 18392055

2008

dbSNP: rs3745274
rs3745274
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.010 GeneticVariation BEFREE Here, we aimed to evaluate the association between genotype or allele of CYP2B6 516G>T SNP and acute leukemia and myelodysplastic syndrome (MDS). 20878158

2011