rs397514644, AKT1

N. diseases: 2
Disease: COWDEN SYNDROME 6 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
COWDEN SYNDROME 6
CUI: C3554519
Disease: COWDEN SYNDROME 6
0.800 GeneticVariation UNIPROT Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. 23246288 2013
COWDEN SYNDROME 6
CUI: C3554519
Disease: COWDEN SYNDROME 6
0.800 CausalMutation CLINVAR