Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains. 12575993

2003
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites. 11399089

2001
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Cloning, expression and chromosome locations of the human DNMT3 gene family. 10433969

1999
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. 10647011

1999
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. 10325416

1999
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Predictive motifs derived from cytosine methyltransferases. 2717398

1989