Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781330
rs587781330
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		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: rs587781330
rs587781330
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		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: rs587781330
rs587781330
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		A 0.700 CausalMutation CLINVAR Allele-specific expression of APC in adenomatous polyposis families. 20434453

2010
dbSNP: rs587781330
rs587781330
APC
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		A 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998