Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882

2010
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 GeneticVariation CLINVAR