Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228570
rs2228570
VDR
0.010 GeneticVariation BEFREE Moreover, TT carriers of rs2228570 were closely associated with a poor response to treatment and a higher risk of myelodysplastic syndrome/acute leukemia transformation, while CT carriers more easily evolved to overt paroxysmal nocturnal hemoglobinuria. 27018192

2016

dbSNP: rs2267437
rs2267437
0.010 GeneticVariation BEFREE We found that the rs228593, rs2267437 and rs1805388 functional polymorphisms probably alter the level of expression of the ATM, XRCC6 and LIG4 genes, respectively, being important in the maintenance of genomic instability in MDS. 27497341

2016

dbSNP: rs228593
rs228593
ATM
0.010 GeneticVariation BEFREE We found that the rs228593, rs2267437 and rs1805388 functional polymorphisms probably alter the level of expression of the ATM, XRCC6 and LIG4 genes, respectively, being important in the maintenance of genomic instability in MDS. 27497341

2016

dbSNP: rs243865
rs243865
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800

2016

dbSNP: rs25489
rs25489
0.010 GeneticVariation BEFREE Our study suggests that XRCC1 (Arg280His) and XPD polymorphisms are associated with risk of MDS and XRCC1 polymorphism strongly associated with advanced MDS subgroup. 26482462

2016

dbSNP: rs3918242
rs3918242
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800

2016

dbSNP: rs4898
rs4898
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800

2016

dbSNP: rs4898
rs4898
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800

2016

dbSNP: rs745564626
rs745564626
0.010 GeneticVariation BEFREE Our study suggests that XRCC1 (Arg280His) and XPD polymorphisms are associated with risk of MDS and XRCC1 polymorphism strongly associated with advanced MDS subgroup. 26482462

2016

dbSNP: rs755174338
rs755174338
0.010 GeneticVariation BEFREE Our study suggests that XRCC1 (Arg280His) and XPD polymorphisms are associated with risk of MDS and XRCC1 polymorphism strongly associated with advanced MDS subgroup. 26482462

2016

dbSNP: rs767232094
rs767232094
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800

2016

dbSNP: rs8179090
rs8179090
0.010 GeneticVariation BEFREE The present study aimed to investigate mRNA expression and gelatinase A and B secretion from BM-MNCs in vitro and genotypic associations of MMP-2 (-1306 C/T; rs243865), MMP-9 (-1562 C/T; rs3918242), tissue inhibitor of metalloproteinase -1 (TIMP-1) (372T/C; rs4898, Exon 5) and TIMP-2 (-418G/C; rs8179090) in MDS and AML. 27039800

2016

dbSNP: rs1464681682
rs1464681682
0.010 GeneticVariation BEFREE We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS). 25311244

2015

dbSNP: rs1801320
rs1801320
0.010 GeneticVariation BEFREE The G/C heterozygote genotype of rs1801320 polymorphism was associated with a decreased chance of developing MDS (p = 0.05). 25312513

2015

dbSNP: rs3835
rs3835
0.010 GeneticVariation BEFREE We found that the A/G heterozygous genotype of the rs3835 polymorphism is associated with decreased chance of developing MDS (p < 0.001). 25312513

2015

dbSNP: rs775743629
rs775743629
0.010 GeneticVariation BEFREE These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome. 26416416

2015

dbSNP: rs2308321
rs2308321
0.010 GeneticVariation BEFREE Two non-synonymous SNPs present in the methylguanine methyltransferase (MGMT) gene, in complete linkage disequilibrium, were significantly associated with t-MDS: rs2308321 and rs2308327, with a raw p value of 7.4 × 10(-5) and a corrected p value after Benjamini-Hochberg correction of 0.014. 24238921

2014

dbSNP: rs2308327
rs2308327
0.010 GeneticVariation BEFREE Two non-synonymous SNPs present in the methylguanine methyltransferase (MGMT) gene, in complete linkage disequilibrium, were significantly associated with t-MDS: rs2308321 and rs2308327, with a raw p value of 7.4 × 10(-5) and a corrected p value after Benjamini-Hochberg correction of 0.014. 24238921

2014

dbSNP: rs4553808
rs4553808
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737

2014

dbSNP: rs893810317
rs893810317
0.010 GeneticVariation BEFREE Thus, we conducted whole-genome sequencing on a patient with a germline GATA-2 heterozygous mutation (c. 988 C > T; p. R330X), who had a history suggestive of immunodeficiency and evolved into MDS/AML. 24782121

2014

dbSNP: rs1045642
rs1045642
0.010 GeneticVariation BEFREE Moreover, MDR-1 C3435T may have a protective effect against MDS progression because the expected lower expression of P-glycoprotein would lead to a higher degree of cell death. 23684483

2013

dbSNP: rs2072671
rs2072671
CDA
0.010 GeneticVariation BEFREE The effect of CDA SNP A79C and gender on CDA expression, enzyme activity, and drug pharmacokinetics/pharmacodynamics was examined in mice and humans, and the impact on overall survival (OS) was evaluated in 5-azacytidine/decitabine-treated patients with MDS (n = 90) and cytarabine-treated patients with acute myeloid leukemia (AML) (n = 76). 23287564

2013

dbSNP: rs587779821
rs587779821
ATM
0.010 GeneticVariation BEFREE Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001). 23440662

2013

dbSNP: rs1470755915
rs1470755915
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011

dbSNP: rs3745274
rs3745274
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011