Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876660535
rs876660535
PTEN
A 0.700 GeneticVariation CLINVAR Unique biochemical properties of the protein tyrosine phosphatase activity of PTEN-demonstration of different active site structural requirements for phosphopeptide and phospholipid phosphatase activities of PTEN. 20685300

2010
dbSNP: rs876660535
rs876660535
PTEN
A 0.700 GeneticVariation CLINVAR A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer. 18558293

2008
dbSNP: rs876660535
rs876660535
PTEN
A 0.700 GeneticVariation CLINVAR PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation. 17324556

2007
dbSNP: rs876660535
rs876660535
PTEN
A 0.700 GeneticVariation CLINVAR Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome. 15211648

2004
dbSNP: rs876660535
rs876660535
PTEN
A 0.700 GeneticVariation CLINVAR PTEN: one gene, many syndromes. 12938083

2003