Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520016
rs1057520016
0.010 GeneticVariation BEFREE This study provides clues in understanding structural basis of T875N mutation caused JAK2 hyperactivation and its roles in the pathology of AML. 31299252

2019

dbSNP: rs111394117
rs111394117
0.010 GeneticVariation BEFREE For patients with AML, the increased risk of post-HSCT relapse was associated with the donor SNP of rs111394117 in the intron of NOTCH4 gene, and the recipient SNPs of rs213210 in the ring finger protein 1 (RING1) gene promoter, and rs17220087 and rs17213693 in the intron of HLA-DOB gene. 31551439

2019

dbSNP: rs1178981336
rs1178981336
0.010 GeneticVariation BEFREE γH2AX immunofluorescent staining assay revealed increased DNA damage in a human acute myeloid leukemia (AML) cell line ectopically expressing HLTF E259K, which was not observed in cells expressing wild-type HLTF. 30696947

2019

dbSNP: rs138817062
rs138817062
PML
0.010 GeneticVariation BEFREE Although HIPK2 mutations (R861W and N951I) were found in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients, little is known about the underlying mechanisms by which HIPK2 mutations are associated with the pathogenesis of leukemia. 30755814

2019

dbSNP: rs142269166
rs142269166
0.010 GeneticVariation BEFREE Detected variants occurred at higher than expected frequencies in patients with MPNs and AML in comparison with the population, and N1108S had a significantly increased prevalence in patients with AML. 30811597

2019

dbSNP: rs150008607
rs150008607
0.010 GeneticVariation BEFREE In this study, we investigated the biologic significance of novel MYH8 tail truncation mutation, R1292X in acute myeloid leukemia (AML) which discovered by whole-exome sequencing and targeted re-sequencing of 209 AML patients. 31430364

2019

dbSNP: rs17213693
rs17213693
0.010 GeneticVariation BEFREE For patients with AML, the increased risk of post-HSCT relapse was associated with the donor SNP of rs111394117 in the intron of NOTCH4 gene, and the recipient SNPs of rs213210 in the ring finger protein 1 (RING1) gene promoter, and rs17220087 and rs17213693 in the intron of HLA-DOB gene. 31551439

2019

dbSNP: rs17220087
rs17220087
0.010 GeneticVariation BEFREE For patients with AML, the increased risk of post-HSCT relapse was associated with the donor SNP of rs111394117 in the intron of NOTCH4 gene, and the recipient SNPs of rs213210 in the ring finger protein 1 (RING1) gene promoter, and rs17220087 and rs17213693 in the intron of HLA-DOB gene. 31551439

2019

dbSNP: rs1800470
rs1800470
0.010 GeneticVariation BEFREE We aimed to evaluate the multivariate effect of TNF-α rs361525, rs1800750, rs1800629, IL-10 rs1800896, rs1800872, IL-6 rs1800795, TGF-β1 rs1800470, IFN-γ rs2430561 single nucleotide polymorphisms (SNPs) on AML risk, the multivariate effect of SNPs on overall survival (OS) in AML and the association between the investigated SNPs and prognostic factors in AML. 31373163

2019

dbSNP: rs1800629
rs1800629
TNF
0.010 GeneticVariation BEFREE We aimed to evaluate the multivariate effect of TNF-α rs361525, rs1800750, rs1800629, IL-10 rs1800896, rs1800872, IL-6 rs1800795, TGF-β1 rs1800470, IFN-γ rs2430561 single nucleotide polymorphisms (SNPs) on AML risk, the multivariate effect of SNPs on overall survival (OS) in AML and the association between the investigated SNPs and prognostic factors in AML. 31373163

2019

dbSNP: rs1800750
rs1800750
TNF
0.010 GeneticVariation BEFREE Age above 65 years, PLT count, TNF-α rs1800750 variant genotype, blast percentage, LDH level, and cytogenetic high-risk may be used as independent risk factors to assess AML mortality. 31373163

2019

dbSNP: rs1800795
rs1800795
0.010 GeneticVariation BEFREE We aimed to evaluate the multivariate effect of TNF-α rs361525, rs1800750, rs1800629, IL-10 rs1800896, rs1800872, IL-6 rs1800795, TGF-β1 rs1800470, IFN-γ rs2430561 single nucleotide polymorphisms (SNPs) on AML risk, the multivariate effect of SNPs on overall survival (OS) in AML and the association between the investigated SNPs and prognostic factors in AML. 31373163

2019

dbSNP: rs213210
rs213210
0.010 GeneticVariation BEFREE For patients with AML, the increased risk of post-HSCT relapse was associated with the donor SNP of rs111394117 in the intron of NOTCH4 gene, and the recipient SNPs of rs213210 in the ring finger protein 1 (RING1) gene promoter, and rs17220087 and rs17213693 in the intron of HLA-DOB gene. 31551439

2019

dbSNP: rs2279744
rs2279744
0.010 GeneticVariation BEFREE However, the role of MDM2 -309T>G (rs2279744) polymorphism in AML remains unclear. 31653152

2019

dbSNP: rs2393726
rs2393726
0.010 GeneticVariation BEFREE It was found that the association of <i>ARID5B</i> polymorphisms with AML was most significant in acute promyelocytic leukemia (APL), and exclusively in males, the mutant alleles of rs6415872, rs2393726, rs7073837, rs10821936, and rs7089424 were found to increase the risk of developing APL in men, the odds ratio (OR) were 1.36, 1.74, 1.45, 1.53, and 1.56 (all <i>p</i> < 0.05), respectively. 31599655

2019

dbSNP: rs2430561
rs2430561
0.010 GeneticVariation BEFREE Cytokine rs361525, rs1800750, rs1800629, rs1800896, rs1800872, rs1800795, rs1800470, and rs2430561 SNPs in relation with prognostic factors in acute myeloid leukemia. 31373163

2019

dbSNP: rs3901533
rs3901533
0.010 GeneticVariation BEFREE In conclusion, two Dectin-1 SNPs (rs3901533 and rs7309123) are associated with increased susceptibility to pulmonary IFD in AML patients in a Chinese Han population. 31845221

2019

dbSNP: rs6415872
rs6415872
0.010 GeneticVariation BEFREE It was found that the association of <i>ARID5B</i> polymorphisms with AML was most significant in acute promyelocytic leukemia (APL), and exclusively in males, the mutant alleles of rs6415872, rs2393726, rs7073837, rs10821936, and rs7089424 were found to increase the risk of developing APL in men, the odds ratio (OR) were 1.36, 1.74, 1.45, 1.53, and 1.56 (all <i>p</i> < 0.05), respectively. 31599655

2019

dbSNP: rs7073837
rs7073837
0.010 GeneticVariation BEFREE It was found that the association of <i>ARID5B</i> polymorphisms with AML was most significant in acute promyelocytic leukemia (APL), and exclusively in males, the mutant alleles of rs6415872, rs2393726, rs7073837, rs10821936, and rs7089424 were found to increase the risk of developing APL in men, the odds ratio (OR) were 1.36, 1.74, 1.45, 1.53, and 1.56 (all <i>p</i> < 0.05), respectively. 31599655

2019

dbSNP: rs7089424
rs7089424
0.010 GeneticVariation BEFREE It was found that the association of <i>ARID5B</i> polymorphisms with AML was most significant in acute promyelocytic leukemia (APL), and exclusively in males, the mutant alleles of rs6415872, rs2393726, rs7073837, rs10821936, and rs7089424 were found to increase the risk of developing APL in men, the odds ratio (OR) were 1.36, 1.74, 1.45, 1.53, and 1.56 (all <i>p</i> < 0.05), respectively. 31599655

2019

dbSNP: rs759272576
rs759272576
0.010 GeneticVariation BEFREE Targeted next-generation sequencing at the time of AML progression on gilteritinib identified treatment-emergent mutations that activate RAS/MAPK pathway signaling, most commonly in <i>NRAS</i> or <i>KRAS.</i> Less frequently, secondary <i>FLT3</i>-F691L gatekeeper mutations or <i>BCR-ABL1</i> fusions were identified at progression. 31088841

2019

dbSNP: rs76208147
rs76208147
0.010 GeneticVariation BEFREE Survival analysis indicated that SETD2 rs76208147 TT genotype was significantly associated with poor prognosis of AML (TT vs. CC + CT hazard ratio: HR = 1.838, 95% confidence interval (CI) 1.005-3.360, p = 0.048). 30922329

2019

dbSNP: rs782464336
rs782464336
0.010 GeneticVariation BEFREE In AML cohort of 239 patients, high IL2RA mRNA expression independently predicted shorter relapse free survival (RFS, p < 0.001) and overall survival (OS, p < 0.001) irrespective of age, cytogenetics, FLT3-ITD or c-KIT D816V mutational status. 31171000

2019

dbSNP: rs866587267
rs866587267
0.010 GeneticVariation BEFREE Recent studies identified a recurrent mutational hotspot, R222G, in DHX15 in ~ 6% of acute myeloid leukemia (AML) patients that carry the fusion protein RUNX1-RUNX1T1 produced by t (8;21) (q22;q22). 31691804

2019

dbSNP: rs1051740
rs1051740
0.010 GeneticVariation BEFREE EPHX1 rs1051740 T>C (Tyr113His) is strongly associated with acute myeloid leukemia and KMT2A rearrangements in early age. 29605894

2018