Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514644
rs397514644
AKT1
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6 		0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288

2013
dbSNP: rs397514644
rs397514644
AKT1
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6 		A 0.800 CausalMutation CLINVAR

dbSNP: rs397514645
rs397514645
AKT1
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6 		0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288

2013
dbSNP: rs397514645
rs397514645
AKT1
CUI: C3554519
Disease: COWDEN SYNDROME 6
COWDEN SYNDROME 6 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121434592
rs121434592
AKT1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.770 GeneticVariation UNIPROT

dbSNP: rs121434592
rs121434592
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.730 GeneticVariation UNIPROT Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. 21793738

2011
dbSNP: rs121434592
rs121434592
AKT1
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		0.730 GeneticVariation UNIPROT Molecular mechanism of an oncogenic mutation that alters membrane targeting: Glu17Lys modifies the PIP lipid specificity of the AKT1 PH domain. 18954143

2008
dbSNP: rs1057519804
rs1057519804
AKT1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 GeneticVariation CLINVAR A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. 24265152

2014
dbSNP: rs2494748
rs2494748
AKT1
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs2494748
rs2494748
AKT1
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531

2018
dbSNP: rs2498796
rs2498796
AKT1
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		A 0.700 GeneticVariation GWASCAT Five endometrial cancer risk loci identified through genome-wide association analysis. 27135401

2016
dbSNP: rs61759760
rs61759760
AKT1
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019