rs1085308041, PTEN

N. diseases: 12
Disease: Lhermitte-Duclos disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017