Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		0.710 GeneticVariation BEFREE The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7. 26678657

2016
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR Mutations of the human PTEN gene. 10923032

2000
dbSNP: rs121909219
rs121909219
PTEN
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		T 0.710 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997