Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913321
rs121913321
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		G 0.700 CausalMutation CLINVAR Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. 20435009

2010
dbSNP: rs121913321
rs121913321
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		G 0.700 CausalMutation CLINVAR STK11/LKB1 germline mutations in the first Peutz-Jeghers syndrome patients identified in Slovakia. 17319781

2007
dbSNP: rs121913321
rs121913321
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		GC 0.700 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005
dbSNP: rs121913321
rs121913321
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		G 0.700 CausalMutation CLINVAR Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients. 10353780

1999
dbSNP: rs121913321
rs121913321
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		G 0.700 CausalMutation CLINVAR Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200

1998
dbSNP: rs121913321
rs121913321
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		GC 0.700 CausalMutation CLINVAR Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200

1998