Gene: DNMT3A ×
Source: INFERRED ×
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 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation. 12138111

2002
dbSNP: rs781139634
rs781139634
DNMT3A
A 0.700 CausalMutation CLINVAR A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation. 12138111

2002
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: rs781139634
rs781139634
DNMT3A
A 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 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 27991732

2017
dbSNP: rs781139634
rs781139634
DNMT3A
A 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 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 21844811

2011
dbSNP: rs781139634
rs781139634
DNMT3A
A 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 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011

1999
dbSNP: rs781139634
rs781139634
DNMT3A
A 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 Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969

1999
dbSNP: rs781139634
rs781139634
DNMT3A
A 0.700 CausalMutation CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969

1999
dbSNP: rs147001633
rs147001633
DNMT3A
T 0.700 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268

2007
dbSNP: rs781139634
rs781139634
DNMT3A
A 0.700 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268

2007
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: rs781139634
rs781139634
DNMT3A
A 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 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
dbSNP: rs781139634
rs781139634
DNMT3A
A 0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009
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: rs781139634
rs781139634
DNMT3A
A 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 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930

2007
dbSNP: rs781139634
rs781139634
DNMT3A
A 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 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230

2005
dbSNP: rs781139634
rs781139634
DNMT3A
A 0.700 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230

2005
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