Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881973
rs730881973
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Insights into the phosphoryl transfer catalyzed by cAMP-dependent protein kinase: an X-ray crystallographic study of complexes with various metals and peptide substrate SP20. 23672593

2013
dbSNP: rs730881973
rs730881973
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs730881972
rs730881972
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. 9887330

1999
dbSNP: rs730881972
rs730881972
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Relative frequency and morphology of cancers in STK11 mutation carriers. 15188174

2004
dbSNP: rs730881972
rs730881972
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR An unusual case of sex cord tumor with annular tubules with malignant transformation in a patient with Peutz-Jeghers syndrome. 19952941

2010
dbSNP: rs730881972
rs730881972
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Genetic and Clinical Analyses of Southern Chinese Children with Peutz-Jeghers Syndrome. 26225618

2015
dbSNP: rs730881970
rs730881970
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768

2004
dbSNP: rs730881969
rs730881969
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
dbSNP: rs730881969
rs730881969
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. 12865922

2003
dbSNP: rs730881959
rs730881959
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs730881958
rs730881958
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587782424
rs587782424
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587782018
rs587782018
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 11389158

2001
dbSNP: rs587782018
rs587782018
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 11389158

2001
dbSNP: rs587782018
rs587782018
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. 12865922

2003
dbSNP: rs587781856
rs587781856
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs398123406
rs398123406
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397518440
rs397518440
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Relative frequency and morphology of cancers in STK11 mutation carriers. 15188174

2004
dbSNP: rs397518440
rs397518440
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200

1998
dbSNP: rs397518440
rs397518440
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768

2004
dbSNP: rs397518440
rs397518440
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates. 17924967

2007
dbSNP: rs376280361
rs376280361
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs376280361
rs376280361
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients. 12552571

2003
dbSNP: rs376280361
rs376280361
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. 9809980

1998
dbSNP: rs376280361
rs376280361
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005