Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517830
rs1057517830
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690916
rs1131690916
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 23415580

2013
dbSNP: rs1131690916
rs1131690916
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009
dbSNP: rs1131690917
rs1131690917
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 11389158

2001
dbSNP: rs1131690917
rs1131690917
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690920
rs1131690920
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690921
rs1131690921
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690922
rs1131690922
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GTACC 0.700 CausalMutation CLINVAR

dbSNP: rs1131690923
rs1131690923
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690924
rs1131690924
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131690925
rs1131690925
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690926
rs1131690926
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690929
rs1131690929
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs1131690930
rs1131690930
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		TC 0.700 CausalMutation CLINVAR

dbSNP: rs1131690931
rs1131690931
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 11389158

2001
dbSNP: rs1131690933
rs1131690933
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AGAAGC 0.700 CausalMutation CLINVAR

dbSNP: rs1131690934
rs1131690934
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. 16707622

2006
dbSNP: rs1131690934
rs1131690934
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. 11389158

2001
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome. 24652667

2014
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 23415580

2013
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Predicting the functional effect of amino acid substitutions and indels. 23056405

2012
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome. 19908348

2009
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR SIRT1 modulation of the acetylation status, cytosolic localization, and activity of LKB1. Possible role in AMP-activated protein kinase activation. 18687677

2008
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777

1999
dbSNP: rs1131690935
rs1131690935
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR Morphology-dependent resonances in a large dielectric sphere: An asymptotic calculation using local coordinates. 9908348

1992