Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193303018
rs193303018
0.700 CausalMutation CLINVAR Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 20550934

2010

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: rs1045642
rs1045642
0.010 GeneticVariation BEFREE Moreover, MDR-1 C3435T may have a protective effect against MDS progression because the expected lower expression of P-glycoprotein would lead to a higher degree of cell death. 23684483

2013

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: rs587779821
rs587779821
ATM
0.010 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: rs2072671
rs2072671
CDA
0.010 GeneticVariation BEFREE The effect of CDA SNP A79C and gender on CDA expression, enzyme activity, and drug pharmacokinetics/pharmacodynamics was examined in mice and humans, and the impact on overall survival (OS) was evaluated in 5-azacytidine/decitabine-treated patients with MDS (n = 90) and cytarabine-treated patients with acute myeloid leukemia (AML) (n = 76). 23287564

2013

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: rs147001633
rs147001633
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs377577594
rs377577594
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs1799793
rs1799793
0.010 GeneticVariation BEFREE The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. 28472728

2017

dbSNP: rs755174338
rs755174338
0.010 GeneticVariation BEFREE Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. 26482462

2016

dbSNP: rs1800067
rs1800067
0.010 GeneticVariation BEFREE The association between Xeroderma Pigmentosum DNA repair genes (XPA rs1800975, XPC rs2228000, XPD rs1799793 and XPF rs1800067) polymorphisms and myelodysplastic syndrome (MDS) have not been reported. 28472728

2017

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

2004

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 The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. 21242295

2011

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: 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

dbSNP: rs387906631
rs387906631
0.820 SusceptibilityMutation CLINVAR Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. 21670465

2011

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

2011

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

2010

dbSNP: rs752746786
rs752746786
0.700 CausalMutation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015

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

2017

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

2009

dbSNP: rs1799945
rs1799945
0.030 GeneticVariation BEFREE The H63D variant was observed in 35% and the C282Y variant as heterozygous in 5% of patients with MDS with IOL. 25841232

2016