rs121434592, AKT1

N. diseases: 54
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266 2010
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.020 GeneticVariation BEFREE They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. 17921701 2007