Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909229
rs121909229
PTEN
C 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121909229
rs121909229
PTEN
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121909229
rs121909229
PTEN
0.710 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016
dbSNP: rs121909229
rs121909229
PTEN
A 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs121909224
rs121909224
PTEN
G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016
dbSNP: rs1057519724
rs1057519724
PTEN
T 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs1057519724
rs1057519724
PTEN
T 0.700 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938

2010
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938

2010
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs121913289
rs121913289
PTEN
T 0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058

2010
dbSNP: rs121913289
rs121913289
PTEN
T 0.700 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938

2010
dbSNP: rs1057519724
rs1057519724
PTEN
T 0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001
dbSNP: rs121913289
rs121913289
PTEN
T 0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001
dbSNP: rs1057519724
rs1057519724
PTEN
T 0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs121913289
rs121913289
PTEN
T 0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs1554897879
rs1554897879
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909218
rs121909218
PTEN
0.010 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016
dbSNP: rs121913292
rs121913292
PTEN
0.010 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016
dbSNP: rs57374291
rs57374291
PTEN
0.010 GeneticVariation BEFREE In this study, we predicted and analyzed the impact of three deleterious coding non-synonymous single nucleotide polymorphisms rs121909218 (G129E), rs121909229 (R130Q) and rs57374291 (D107N) in the PTEN gene on the phenotype of breast tumors using computational tools SIFT, Polyphen-2, PROVEAN, MUPro, POPMusic and the GETAREA server. 27221918

2016