Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer. 18558293

2008

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. 10920277

2000

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396

1997

dbSNP: rs121909219
rs121909219
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome
T 0.700 CausalMutation CLINVAR Germline mutations in PTEN are present in Bannayan-Zonana syndrome. 9241266

1997