Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690917
rs1131690917
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		TG 0.700 CausalMutation CLINVAR High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome. 23718779

2013
dbSNP: rs1131690917
rs1131690917
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		TG 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005
dbSNP: rs1131690917
rs1131690917
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		TG 0.700 CausalMutation CLINVAR Peutz-Jeghers syndrome: molecular analysis of a three-generation kindred with a novel defect in the serine threonine kinase gene STK11. 9934767

1999