Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520007
rs1057520007
0.010 GeneticVariation BEFREE The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians. 28938223

2017

dbSNP: rs16944
rs16944
0.010 GeneticVariation BEFREE Polymorphisms of Interlukin-1β rs16944 confer susceptibility to myelodysplastic syndromes. 27693669

2017

dbSNP: rs1799793
rs1799793
0.010 GeneticVariation BEFREE The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. 28472728

2017

dbSNP: rs1800067
rs1800067
0.010 GeneticVariation BEFREE The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. 28472728

2017

dbSNP: rs1800975
rs1800975
XPA
0.010 GeneticVariation BEFREE The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. 28472728

2017

dbSNP: rs559063155
rs559063155
0.010 GeneticVariation BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819

2017

dbSNP: rs866082104
rs866082104
0.010 GeneticVariation BEFREE Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts. 27604819

2017

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

2016

dbSNP: rs25489
rs25489
0.010 GeneticVariation BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462

2016

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

2016

dbSNP: rs745564626
rs745564626
0.010 GeneticVariation BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462

2016

dbSNP: rs755174338
rs755174338
0.010 GeneticVariation BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462

2016

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

2011

dbSNP: rs387906717
rs387906717
WAS
0.010 GeneticVariation BEFREE A recently identified WASp(I294T) mutation was shown to render WASp constitutively active in vivo, causing increased filamentous (F)-actin polymerization, high podosome turnover in macrophages, and myelodysplasia. 20354175

2010

dbSNP: rs1695
rs1695
0.010 GeneticVariation BEFREE The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis. 19027952

2009

dbSNP: rs121913615
rs121913615
MPL
0.010 GeneticVariation BEFREE We report a patient with a JAK2 V617F-negative myeloproliferative/myelodysplastic syndrome who had abnormal megakaryocytic pSTAT5 expression and a MPL W515L mutation. 18479730

2008

dbSNP: rs121913488
rs121913488
0.010 GeneticVariation BEFREE One patient had FLT3/TKD mutation (D835Y) at both MDS and AML stages. 14737077

2004

dbSNP: rs72661120
rs72661120
0.010 GeneticVariation BEFREE We found a novel G to C transversion resulting in a change from Ala to Gly at codon 507 of CHK2 in one MDS sample, but normal cells from this individual did not have the abnormality. 11248330

2001

dbSNP: rs781517199
rs781517199
0.010 GeneticVariation BEFREE Here, point mutations of the AML1 gene, V105ter (single-letter amino acid code) and R139G, (single-letter amino acid codes) were identified in 2 cases of myelodysplastic syndrome (MDS) by means of the reverse transcriptase-polymerase chain reaction single-strand conformation polymorphism method. 11049997

2000

dbSNP: rs11540654
rs11540654
0.020 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

2016