rs147001633, DNMT3A

N. diseases: 15
Disease: Tatton Brown Rahman syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tatton Brown Rahman syndrome
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
0.710 GeneticVariation BEFREE This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML. 27991732 2017
Tatton Brown Rahman syndrome
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
0.710 CausalMutation CLINVAR