AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Disease: COWDEN SYNDROME 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514644
rs397514644
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6 		0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
dbSNP: rs397514645
rs397514645
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6 		0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
dbSNP: rs397514644
rs397514644
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397514645
rs397514645
Entrez Id: 207
Gene Symbol: AKT1
AKT1
CUI: C3554519
Disease:
COWDEN SYNDROME 6 		G 0.800 CausalMutation CLINVAR