Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518440
rs397518440
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
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: rs397518440
rs397518440
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768 2004
dbSNP: rs397518440
rs397518440
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Relative frequency and morphology of cancers in STK11 mutation carriers. 15188174 2004
dbSNP: rs397518440
rs397518440
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200 1998