Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777848503
rs777848503
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs777848503
rs777848503
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli
G 0.700 GeneticVariation CLINVAR Diverse modes of genomic alteration in hepatocellular carcinoma. 25159915 2014
dbSNP: rs777848503
rs777848503
Entrez Id: 324
Gene Symbol: APC
APC
CUI: C0032580
Disease:
Adenomatous Polyposis Coli
G 0.700 GeneticVariation 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