Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR PTEN mutations and relationship to EGFR, ERBB2, KRAS, and TP53 mutations in non-small cell lung cancers. 20018398

2010
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938

2010
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR Somatic mutations in epidermal growth factor receptor signaling pathway genes in non-small cell lung cancers. 20881644

2010
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR PTEN loss contributes to erlotinib resistance in EGFR-mutant lung cancer by activation of Akt and EGFR. 19351834

2009
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908

2001
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		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
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		T 0.700 CausalMutation CLINVAR Inactivation of the PTEN/MMAC1/TEP1 gene in human lung cancers. 9598803

1998