Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE We selected the six patients with myelodysplastic syndromes</span> or AML because they carried acquired rearrangements on chromosome 4q24; we selected the five patients with myeloproliferative disorders because they carried a dominant clone in hematopoietic progenitor cells that was positive for the V617F mutation in the Janus kinase 2 (JAK2) gene. 19474426

2009

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

2009

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

2009

dbSNP: rs752492487
rs752492487
0.010 GeneticVariation BEFREE The GSTP1-Ile105Val polymorphism is likely to influence MDS risk and prognosis. 19027952

2009

dbSNP: rs121913502
rs121913502
0.720 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: rs77375493
rs77375493
0.100 GeneticVariation BEFREE To determine if JAK2 V617F mutation is implicated in the abnormal thrombopoiesis of the 3q21q26 syndrome, we analyzed bone marrow samples of 12 patients, including 10 patients with acute myeloid leukemia and 2 patients with a myelodysplastic syndrome, associated with either inv(3)(q21;q26) or t(3;3)(q21;q26). 20153505

2010

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE JAK2(V617F) mutation in myelodysplastic syndrome (MDS) with del(5q) arises in genetically discordant clones. 19819015

2010

dbSNP: rs1799945
rs1799945
0.040 GeneticVariation BEFREE The results suggest that H63D mutations may not have clinical significance in Chinese patients with MDS and AA. 20563578

2010

dbSNP: rs142883642
rs142883642
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
0.010 GeneticVariation BEFREE One of these children had an A1517C mutation and transient myelodysplasia. 20954246

2010

dbSNP: rs387906631
rs387906631
0.820 GeneticVariation BEFREE We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162

2011

dbSNP: rs387906631
rs387906631
0.820 GeneticVariation UNIPROT We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family. 21892162

2011

dbSNP: rs371246226
rs371246226
0.710 GeneticVariation UNIPROT Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. 22158538

2011

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

dbSNP: rs927698341
rs927698341
0.010 GeneticVariation BEFREE MDS was unrelated to the genotype and allele frequencies of c.516G>T SNP in CYP2B6. 20878158

2011

dbSNP: rs387906631
rs387906631
0.820 GeneticVariation BEFREE Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. 22147895

2012

dbSNP: rs121913502
rs121913502
0.720 GeneticVariation BEFREE In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C). 22033490

2012

dbSNP: rs121913499
rs121913499
0.710 GeneticVariation BEFREE In the current study of 277 patients with MDS, IDH mutations were detected in 34 (12%) cases: 26 IDH2 (all R140Q) and 8 IDH1 (6 R132S and 2 R132C). 22033490

2012

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Because detailed clinical and hematological characteristics of CBL-mutated cases is lacking, we screened 156 BCR-ABL and JAK2 V617F negative patients with myeloproliferative neoplasms (MPN) and overlap syndromes between myelodysplastic syndrome (MDS) and MPN (MPS/MPN) for mutations in exons 8 and 9 of CBL by denaturing high-performance liquid chromatography and direct sequencing. 23010802

2012

dbSNP: rs1042522
rs1042522
0.030 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: rs1131691014
rs1131691014
0.030 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: rs878854066
rs878854066
0.030 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