Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690936
rs1131690936
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1131690939
rs1131690939
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs1131690940
rs1131690940
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. 16707622

2006
dbSNP: rs1131690940
rs1131690940
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 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: rs1131690940
rs1131690940
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005
dbSNP: rs1131690940
rs1131690940
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Relative frequency and morphology of cancers in STK11 mutation carriers. 15188174

2004
dbSNP: rs1131690940
rs1131690940
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. 9850045

1998
dbSNP: rs1131690941
rs1131690941
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690944
rs1131690944
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1131690945
rs1131690945
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131690946
rs1131690946
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		AC 0.700 CausalMutation CLINVAR

dbSNP: rs1131690947
rs1131690947
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients. 21118512

2010
dbSNP: rs1131690948
rs1131690948
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1131690949
rs1131690949
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		CG 0.700 CausalMutation CLINVAR

dbSNP: rs1131690950
rs1131690950
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. 16707622

2006
dbSNP: rs1131690950
rs1131690950
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005
dbSNP: rs1131690950
rs1131690950
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
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
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: rs1131690951
rs1131690951
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome. 17404884

2007
dbSNP: rs1131690951
rs1131690951
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005
dbSNP: rs1131690951
rs1131690951
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. 15608654

2005
dbSNP: rs1131690951
rs1131690951
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. 12112668

2002
dbSNP: rs1131690952
rs1131690952
STK11
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		GA 0.700 CausalMutation CLINVAR