Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167676
rs1114167676
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. 25549896

2015
dbSNP: rs1114167676
rs1114167676
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Novel PTEN germline mutation in a family with mild phenotype: difficulties in genetic counseling. 23124040

2013