Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434593
rs121434593
AKT2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes? 23492873

2013
dbSNP: rs121434593
rs121434593
AKT2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121434593
rs121434593
AKT2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation UNIPROT Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. 19164855

2009
dbSNP: rs121434593
rs121434593
AKT2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.800 GeneticVariation UNIPROT A family with severe insulin resistance and diabetes due to a mutation in AKT2. 15166380

2004
dbSNP: rs121434593
rs121434593
AKT2
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906659
rs387906659
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		0.800 GeneticVariation UNIPROT An activating mutation of AKT2 and human hypoglycemia. 21979934

2011
dbSNP: rs387906659
rs387906659
AKT2
CUI: C3278384
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1057519754
rs1057519754
AKT2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519754
rs1057519754
AKT2
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		C 0.700 GeneticVariation CLINVAR Colorectal cancer: mutations in a signalling pathway. 16094359

2005
dbSNP: rs11880261
rs11880261
AKT2 ; MIR641
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs16974157
rs16974157
AKT2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs7247515
rs7247515
AKT2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs7250897
rs7250897
AKT2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs778561687
rs778561687
AKT2
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs778561687
rs778561687
AKT2
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 GeneticVariation CLINVAR AKT1 and AKT2 mutations in lung cancer in a Japanese population. 21479466

2012
dbSNP: rs969531
rs969531
AKT2
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959

2017
dbSNP: rs9710247
rs9710247
AKT2 ; LOC107985289
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		G 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976

2017