rs147001633, DNMT3A

N. diseases: 15
Disease: Primary malignant neoplasm ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE These findings provide a mechanistic explanation for the observed loss of DNMT3A activity associated with the R882H hot spot mutation in cancer. 31582562 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE R882H specific DNA hypermethylation events in AML patients were accompanied by R882H specific mis-regulation of several genes with strong c</span>ancer connection, which are potential downstream targets of R882H. 31620784 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.030 GeneticVariation BEFREE This result suggests that R882 is involved in the indirect readout of flanking sequence preferences of DNMT3A and it may explain the particular enrichment of the R882H mutation in cancer patients by revealing mutation specific effects. 29518238 2018