Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371769427
rs371769427
0.850 GeneticVariation UNIPROT

dbSNP: rs387906631
rs387906631
A 0.820 SusceptibilityMutation CLINVAR

dbSNP: rs193303018
rs193303018
ND1 ; ND2 ; TRNL1
A 0.700 CausalMutation CLINVAR

dbSNP: rs752746786
rs752746786
G 0.700 CausalMutation CLINVAR

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: 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: rs1800562
rs1800562
0.050 GeneticVariation BEFREE Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. 12624489

2003

dbSNP: rs1799945
rs1799945
0.040 GeneticVariation BEFREE Genotypic testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations when compared to healthy blood donors reflecting the average population. 12624489

2003

dbSNP: rs1800562
rs1800562
0.050 GeneticVariation BEFREE With C282Y, increased OR occurred in non-Hodgkin lymphoma, myeloproliferative disorders, and adenocarcinoma of prostate (2.0, 2.8, and 3.4, respectively); OR was decreased in myelodysplasia (0.4). 15018631

2004

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

2004

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE Bone marrow-derived genomic DNA from 245 patients--119 with chronic myelomonocytic leukemia (CMML), 101 with MDS, 11 with hypereosinophilic syndrome (HES), 8 with systemic mastocytosis (SM), and 6 with chronic neutrophilic leukemia (CNL)--was screened for the JAK2 V617F mutation. 15860661

2005

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: rs77375493
rs77375493
0.100 GeneticVariation BEFREE In typical forms of MDS (n = 89) JAK2 V617F mutation was very rare (n = 2). 16741247

2006

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression. 17050076

2006

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The V617F mutation is present in blood and marrow from a large proportion of patients with classic BCR/ABL-negative chronic myeloproliferative disorders and of a few patients with other clonal hematological diseases such as myelodysplastic syndrome, atypical myeloproliferative disorders, and acute myeloid leukemia. 16931578

2006

dbSNP: rs1800562
rs1800562
0.050 GeneticVariation BEFREE 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP. 17001480

2006

dbSNP: rs1799945
rs1799945
0.040 GeneticVariation BEFREE 49 patients with MM were compared to 61 patients with myelodysplastic syndrome (MDS) concerning the incidence of two genetic variants of the HFE gene (C282Y and H63D) identified with PCR-RFLP. 17001480

2006

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE We applied single nucleotide polymorphism arrays (SNP-A) to study karyotypic abnormalities in patients with atypical myeloproliferative syndromes (MPD), including myeloproliferative/myelodysplastic syndrome overlap both positive and negative for the JAK2 V617F mutation and secondary acute myeloid leukemia (AML). 18030353

2007

dbSNP: rs1800562
rs1800562
0.050 GeneticVariation BEFREE Increased prevalence of HFE gene mutations is not a generalized feature of MDS, but some subgroups of MDS, especially those characterized by excessive accumulation of ringed sideroblasts, exhibit C282Y mutations at a higher frequency than in other forms of MDS and healthy controls. 17654685

2007

dbSNP: rs77375493
rs77375493
0.100 GeneticVariation BEFREE The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. 18336541

2008

dbSNP: rs77375493
rs77375493
0.100 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: rs1695
rs1695
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
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: 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