Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.030 GeneticVariation BEFREE The R882H mutation causes a reduction in DNA methyltransferase activity and hypomethylation at differentially-methylated regions within the genome, ultimately preventing hematopoietic stem cell differentiation and leading to leukemogenesis. 31582562

2019
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.030 GeneticVariation BEFREE Molecularly, both DNMT3A-WT and R882H/C mutants interacted with PRDX2; and R882C/H mutation-induced hypomethylation increased PRDX2 expression which enhanced cell proliferation and growth with impairment of apoptosis, thereby contributing to leukemogenesis. 30245403

2018
dbSNP: rs147001633
rs147001633
DNMT3A
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.030 GeneticVariation BEFREE Moreover, DNMT3A-R882H increased the CDK1 protein level and enhanced cell-cycle activity, thereby contributing to leukemogenesis. 24497509

2014