Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906631
rs387906631
0.820 GeneticVariation UNIPROT

dbSNP: rs267607040
rs267607040
0.700 GeneticVariation UNIPROT

dbSNP: rs267607042
rs267607042
0.700 GeneticVariation UNIPROT

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: rs193303018
rs193303018
0.700 CausalMutation CLINVAR Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome. 14576046

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
0.090 GeneticVariation BEFREE The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes. 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: rs77375493
rs77375493
0.090 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: rs77375493
rs77375493
0.090 GeneticVariation BEFREE In typical forms of MDS (n = 89) JAK2 V617F mutation was very rare (n = 2). 16741247

2006

dbSNP: rs1799945
rs1799945
0.030 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

2007

dbSNP: rs1800562
rs1800562
0.030 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

2007

dbSNP: rs77375493
rs77375493
0.090 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

2008

dbSNP: rs77375493
rs77375493
0.090 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: rs1800562
rs1800562
0.030 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

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

dbSNP: rs77375493
rs77375493
0.090 GeneticVariation BEFREE TET2 defects were observed in 15 of 81 patients with myelodysplastic syndromes (19%), in 24 of 198 patients with myeloproliferative disorders (12%) (with or without the JAK2 V617F mutation), in 5 of 21 patients with secondary AML (24%), and in 2 of 9 patients with chronic myelomonocytic leukemia (22%). 19474426

2009

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

2009

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. 20040766

2010

dbSNP: rs193303018
rs193303018
0.700 CausalMutation CLINVAR Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 20550934

2010

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

2010

dbSNP: rs77375493
rs77375493
0.090 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: 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: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 21242295

2011