Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation BEFREE Effects of Peutz-Jeghers syndrome (PJS) causing missense mutations L67P, L182P, G242V and R297S on the structural dynamics of LKB1 (Liver kinase B1) protein. 29447078

2019
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity. 21411391

2011
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703

2005
dbSNP: rs137853077
rs137853077
STK11
C 0.810 GeneticVariation CLINVAR LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703

2005
dbSNP: rs137853077
rs137853077
STK11
C 0.810 GeneticVariation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768

2004
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 12372054

2002
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777

1999
dbSNP: rs137853077
rs137853077
STK11
C 0.810 GeneticVariation CLINVAR Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. 9887330

1999
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200

1998
dbSNP: rs137853077
rs137853077
STK11
C 0.810 GeneticVariation CLINVAR A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765

1998
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765

1998
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 9837816

1998
dbSNP: rs137853077
rs137853077
STK11
0.810 GeneticVariation UNIPROT Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 9425897

1998
dbSNP: rs137853077
rs137853077
STK11
C 0.810 GeneticVariation CLINVAR Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 9837816

1998
dbSNP: rs137853077
rs137853077
STK11
C 0.810 CausalMutation CLINVAR