PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Renal Cell Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909224
rs121909224
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		G 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121909229
rs121909229
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121909229
rs121909229
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121909229
rs121909229
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs701848
rs701848
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0007134
Disease:
Renal Cell Carcinoma 		0.010 GeneticVariation BEFREE Another variant (rs701848) in the 3'UTR region of PTEN was associated with increased RCC risk (P = 0.014, OR = 1.45, 95%CI = 1.08-1.96, CC vs. TT); however, the association was not significant after adjusting for multiple comparisons. 23209702 2012