Source: UNIPROT

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: 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