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

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

2010

dbSNP: rs77375493
rs77375493
0.090 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

2013

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation CLINVAR Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 23861105

2013

dbSNP: rs371246226
rs371246226
0.810 GeneticVariation CLINVAR Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression. 23861105

2013

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. 21765025

2011

dbSNP: rs752746786
rs752746786
0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2017

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

2010

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: 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: 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: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. 21892162

2011

dbSNP: rs371769427
rs371769427
0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913499
rs121913499
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913502
rs121913502
0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016