Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782350
rs587782350
PTEN
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		0.010 GeneticVariation BEFREE Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family. 10076877

1999