Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854618
rs137854618
0.020 GeneticVariation BEFREE The missense mutation, D1275N, has been associated with a range of unusual phenotypes associated with reduced Na<sub>V</sub>1.5 function, including cardiac conduction disease and dilated cardiomyopathy. 28637969

2017

dbSNP: rs137854618
rs137854618
0.020 GeneticVariation BEFREE The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conduction disease and dilated cardiomyopathy, as well as atrial and ventricular tachyarrhythmias. 21824921

2011