Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs927698341
rs927698341
RUNX1T1
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011
dbSNP: rs142883642
rs142883642
IDH1
0.010 GeneticVariation BEFREE Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS). 20946881

2010
dbSNP: rs1617640
rs1617640
EPO
0.010 GeneticVariation BEFREE These findings suggest a strong association between the rs1617640 G/G genotype and MDS. 21078205

2010
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: rs397507548
rs397507548
PTPN11
0.010 GeneticVariation BEFREE One of these children had an A1517C mutation and transient myelodysplasia. 20954246

2010
dbSNP: rs1265794840
rs1265794840
ERCC2
0.010 GeneticVariation BEFREE The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis. 19027952

2009
dbSNP: rs752492487
rs752492487
RAD51
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
FLT3
0.010 GeneticVariation BEFREE One patient had FLT3/TKD mutation (D835Y) at both MDS and AML stages. 14737077

2004
dbSNP: rs72661120
rs72661120
TP53
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
UBE2V1 ; TMEM189-UBE2V1
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: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
0.020 GeneticVariation BEFREE In this study, we characterized MDS-associated SRSF2 mutants (P95H, P95L, and P95R). 31040863

2019
dbSNP: rs751713049
rs751713049
SRSF2 ; MFSD11 ; MIR636
0.020 GeneticVariation BEFREE To test this hypothesis, we engineered mice to express a mutated allele of serine/arginine-rich splicing factor 2 (Srsf2(P95H))-which commonly occurs in individuals with MDS and AML-in an inducible, hemizygous manner in hematopoietic cells. 27135740

2016
dbSNP: rs1353702185
rs1353702185
MDM2
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

2015
dbSNP: rs121913507
rs121913507
KIT
0.020 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: rs121913682
rs121913682
KIT
0.020 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: rs751689316
rs751689316
MECOM
0.020 GeneticVariation BEFREE Stepwise transduction of D171N followed by BMI1 in human CD34(+) cells resulted in long-term proliferation with a retained CD34(+) cell fraction, which is quite similar to the phenotype in patients with higher-risk MDSs. 23471304

2013
dbSNP: rs1353702185
rs1353702185
MDM2
0.020 GeneticVariation BEFREE Our results showed that the frequencies of genotypes for MDM2 SNP309 and TP53 Arg72Pro did not differ between MDS and healthy controls and that these polymorphisms were not associated with clinical and laboratory parameters, disease progression and overall survival, suggesting that MDM2 and TP53 polymorphisms are not involved in risk for MDS, or in the clinical and laboratory characteristics of the disease. 22668018

2012
dbSNP: rs1695
rs1695
GSTP1
0.020 GeneticVariation BEFREE The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis. 19027952

2009
dbSNP: rs1695
rs1695
GSTP1
0.020 GeneticVariation BEFREE Genetic polymorphism of GSTM1, GSTT1 and GSTP1 Ile105Val was investigated in a case-control study in a Hungarian patient population comprising 86 patients with myelodysplastic syndrome and 99 hospital-based controls. 18493876

2008
dbSNP: rs751689316
rs751689316
MECOM
0.020 GeneticVariation BEFREE Interestingly, among integration sites identified, Evi1 seemed to collaborate with an AML1 mutant harboring a point mutation in the Runt homology domain (D171N) to induce MDS/AML with an identical phenotype characterized by marked hepatosplenomegaly, myeloid dysplasia, leukocytosis, and biphenotypic surface markers. 18192504

2008
dbSNP: rs121913507
rs121913507
KIT
0.020 GeneticVariation BEFREE We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM. 15972446

2005
dbSNP: rs121913682
rs121913682
KIT
0.020 GeneticVariation BEFREE We treated a patient with MCL (with an associated myelodysplastic syndrome (MDS)/myeloproliferative disorder [MPD]) based on in vitro studies demonstrating that PKC412 could inhibit D816V KIT-transformed Ba/F3 cell growth with a 50% inhibitory concentration (IC50) of 30 nM to 40 nM. 15972446

2005
dbSNP: rs559063155
rs559063155
SF3B1
0.030 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: rs559063155
rs559063155
SF3B1
0.030 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