Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308048
rs1085308048
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.010 GeneticVariation BEFREE This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. 10193515

1998