Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs121909218
rs121909218
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909221
rs121909221
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835

1975
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. 16007494

2005
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 11476841

2001
dbSNP: rs1224040268
rs1224040268
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554825165
rs1554825165
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554897889
rs1554897889
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs370795352
rs370795352
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587776667
rs587776667
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587776672
rs587776672
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs786201041
rs786201041
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1554825530
rs1554825530
PTEN
ACT 0.700 GeneticVariation CLINVAR

dbSNP: rs397515374
rs397515374
PTEN
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1060500126
rs1060500126
PTEN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs1085308041
rs1085308041
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167622
rs1114167622
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs121909223
rs121909223
PTEN
C 0.700 CausalMutation CLINVAR