Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517809
rs1057517809
A 0.700 CausalMutation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016

dbSNP: rs1057519368
rs1057519368
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519368
rs1057519368
C 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016

dbSNP: rs1057519368
rs1057519368
C 0.700 GeneticVariation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017

dbSNP: rs1057519724
rs1057519724
T 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016

dbSNP: rs1057519724
rs1057519724
T 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs1057520208
rs1057520208
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520900
rs1057520900
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500110
rs1060500110
A 0.700 GeneticVariation CLINVAR

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

2001

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

2010

dbSNP: rs1060500113
rs1060500113
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1060500114
rs1060500114
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500115
rs1060500115
CT 0.700 CausalMutation CLINVAR

dbSNP: rs1060500116
rs1060500116
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060500124
rs1060500124
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500126
rs1060500126
G 0.700 GeneticVariation CLINVAR Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. 27531073

2016

dbSNP: rs1060500126
rs1060500126
G 0.700 GeneticVariation 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: rs1060500126
rs1060500126
G 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013

dbSNP: rs1060500126
rs1060500126
G 0.700 GeneticVariation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000

dbSNP: rs1060500126
rs1060500126
G 0.700 GeneticVariation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903

2007

dbSNP: rs1060500126
rs1060500126
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500126
rs1060500126
G 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013