Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786203024
rs786203024
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 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: rs786203024
rs786203024
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour. 11768389

2001
dbSNP: rs786203024
rs786203024
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene. 9824584

1998