rs62619935, APC

N. diseases: 8
Disease: Adenomatous Polyposis Coli ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.720 GeneticVariation BEFREE Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X). 21995949 2012
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.720 GeneticVariation BEFREE A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE. 10755094 2000
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.720 CausalMutation CLINVAR