Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554826052
rs1554826052
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AAT 0.700 GeneticVariation CLINVAR PTEN C-terminal deletion causes genomic instability and tumor development. 24561254

2014
dbSNP: rs1554826052
rs1554826052
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AAT 0.700 GeneticVariation CLINVAR PTEN function: the long and the short of it. 24656806

2014
dbSNP: rs1554826052
rs1554826052
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AAT 0.700 GeneticVariation CLINVAR Phosphorylation of the PTEN tail regulates protein stability and function. 10866658

2000
dbSNP: rs1554826052
rs1554826052
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AAT 0.700 GeneticVariation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583

1999