Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123118
rs398123118
APC
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: rs398123118
rs398123118
APC
A 0.700 CausalMutation CLINVAR Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients. 20223039

2005

dbSNP: rs398123118
rs398123118
APC
A 0.700 CausalMutation CLINVAR De novo mutations in familial adenomatous polyposis (FAP). 12357334

2002

dbSNP: rs398123118
rs398123118
APC
A 0.700 CausalMutation CLINVAR Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. 8187091

1994