Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs1114167621
rs1114167621
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: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. 11071384

2000
dbSNP: rs1114167621
rs1114167621
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