rs121913224, APC

N. diseases: 14
Disease: Atrial Premature Complexes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atrial Premature Complexes
CUI: C0033036
Disease: Atrial Premature Complexes
0.010 GeneticVariation BEFREE Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. 30340471 2018