Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9282859
rs9282859
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: rs9282859
rs9282859
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. 12865922

2003

dbSNP: rs886039554
rs886039554
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Cancer risks in LKB1 germline mutation carriers. 16407375

2006

dbSNP: rs886039554
rs886039554
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. 16707622

2006

dbSNP: rs886039554
rs886039554
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. 21118512

2010

dbSNP: rs886037859
rs886037859
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: rs886037859
rs886037859
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. 9887330

1999

dbSNP: rs886037859
rs886037859
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome. 10623683

2000

dbSNP: rs886037859
rs886037859
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768

2004

dbSNP: rs886037859
rs886037859
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: rs878853247
rs878853247
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR

dbSNP: rs876658584
rs876658584
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR

dbSNP: rs864622488
rs864622488
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR

dbSNP: rs786203624
rs786203624
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR

dbSNP: rs786202134
rs786202134
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR

dbSNP: rs778376925
rs778376925
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR

dbSNP: rs778376925
rs778376925
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: rs778376925
rs778376925
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome. 24604241

2014

dbSNP: rs778376925
rs778376925
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: rs778376925
rs778376925
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765

1998

dbSNP: rs775595174
rs775595174
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR

dbSNP: rs730881976
rs730881976
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013

dbSNP: rs730881973
rs730881973
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768

2004

dbSNP: rs730881973
rs730881973
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. 9887330

1999

dbSNP: rs730881973
rs730881973
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Somatic mutations in the STK11/LKB1 gene are uncommon in rare gynecological tumor types associated with Peutz-Jegher's syndrome. 10623683

2000