Source: CLINVAR

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 		A 0.800 CausalMutation CLINVAR

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

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