Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 GeneticVariation BEFREE Conclusion This study provides the first clinical data that AKT1 E17K is a therapeutic target in human cancer. 28489509

2017

dbSNP: rs121434592
rs121434592
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 GeneticVariation BEFREE Recently, a somatic activating mutation in the AKT1 gene (E17K) was identified in several cancer types. 19853286

2010

dbSNP: rs121434592
rs121434592
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 GeneticVariation BEFREE We analysed the presence of the AKT1 E17K mutation in 731 cancer tissues by a single-strand conformation polymorphism assay. 18392055

2008