Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. 23159591

2013
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis. 21643010

2011
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Allele-specific expression of APC in adenomatous polyposis families. 20434453

2010
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP. 20685668

2010
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). 17486639

2007
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Mutation spectrum of the APC gene in 83 Korean FAP families. 16088911

2005
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutation spectrum of the APC gene in 83 Korean FAP families. 16088911

2005
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP). 15108286

2004
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. 10768871

2000
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR APC mutations in familial adenomatous polyposis families in the Northwest of England. 9375853

1997
dbSNP: rs387906234
rs387906234
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Characterization of 19 novel and six recurring APC mutations in Italian adenomatous polyposis patients, using two different mutation detection techniques. 9101302

1997
dbSNP: rs387906234
rs387906234
APC
CUI: C2713442
Disease: Polyposis, Adenomatous Intestinal
Polyposis, Adenomatous Intestinal 		A 0.700 CausalMutation CLINVAR Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. 1316610

1992
dbSNP: rs387906234
rs387906234
APC
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387906234
rs387906234
APC
CUI: C1707251
Disease: Cancer Other
Cancer Other 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387906234
rs387906234
APC
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387906234
rs387906234
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		A 0.700 CausalMutation CLINVAR

dbSNP: rs387906234
rs387906234
APC
CUI: C1858438
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO
COLORECTAL CANCER, SUSCEPTIBILITY TO 		A 0.700 CausalMutation CLINVAR