Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503323
rs1060503323
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations. 24599579

2014
dbSNP: rs1060503323
rs1060503323
APC
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. 19196998

2009