Gene: DNMT3A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354

2011
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. 10555141

1999
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. 12575993

2003
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. 1423634

1992
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171

2006
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 21844811

2011
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930

2007
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011

1999
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents. 12359337

2002
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. 28667884

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398

1989
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells. 15063176

2004
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 26866722

2016
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 27991732

2017
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969

1999