Gene: DNMT3A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759380437
rs759380437
DNMT3A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs771174392
rs771174392
DNMT3A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs147001633
rs147001633
DNMT3A
0.800 GeneticVariation BEFREE AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes. 24656771

2014
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.800 CausalMutation CLINVAR AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes. 24656771

2014
dbSNP: rs147001633
rs147001633
DNMT3A
0.800 GeneticVariation BEFREE R882H specific DNA hypermethylation events in AML patients were accompanied by R882H specific mis-regulation of several genes with strong cancer connection, which are potential downstream targets of R882H. 31620784

2019
dbSNP: rs147001633
rs147001633
DNMT3A
A 0.800 CausalMutation CLINVAR Cancer stem cells: Tracing clones. 22898540

2012
dbSNP: rs377577594
rs377577594
DNMT3A
T 0.710 CausalMutation CLINVAR Cancer stem cells: Tracing clones. 22898540

2012
dbSNP: rs147001633
rs147001633
DNMT3A
0.800 GeneticVariation BEFREE DNMT3A R882H, a frequent mutation in acute myeloid leukemia (AML), plays a critical role in malignant hematopoiesis. 31703632

2019
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.800 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
dbSNP: rs147001633
rs147001633
DNMT3A
G 0.800 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
dbSNP: rs377577594
rs377577594
DNMT3A
A 0.710 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
dbSNP: rs377577594
rs377577594
DNMT3A
T 0.710 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
dbSNP: rs147001633
rs147001633
DNMT3A
0.800 GeneticVariation BEFREE DNMT3A R882H occurs frequently in various cancers, including acute myeloid leukemia, and our results suggest that the effects of R882H and other <i>DNMT3A</i> mutations may go beyond changes in DNMT3A methylation activity. 31640986

2019
dbSNP: rs147001633
rs147001633
DNMT3A
G 0.800 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.800 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs377577594
rs377577594
DNMT3A
A 0.710 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs147001633
rs147001633
DNMT3A
A 0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs147001633
rs147001633
DNMT3A
G 0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs377577594
rs377577594
DNMT3A
C 0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs377577594
rs377577594
DNMT3A
T 0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs377577594
rs377577594
DNMT3A
A 0.710 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.800 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448

2014
dbSNP: rs377577594
rs377577594
DNMT3A
A 0.710 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448

2014
dbSNP: rs147001633
rs147001633
DNMT3A
0.800 GeneticVariation BEFREE Our results provided novel insight into the role of the DNMT3A R882H mutation in AML pathogenesis and suggested that targeting the cellular GSH synthetic pathway could enhance the current therapy for AML patients with the DNMT3A R882H mutation. 28418922

2017