Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690950
rs1131690950
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. 26607058 2015
dbSNP: rs1131690950
rs1131690950
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. 16707622 2006
dbSNP: rs1131690950
rs1131690950
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. 17026623 2006
dbSNP: rs1131690950
rs1131690950
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113 2005
dbSNP: rs1131690950
rs1131690950
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 12372054 2002
dbSNP: rs1131690950
rs1131690950
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 11389158 2001