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 aim of this study was to generate and characterize a transgenic zebrafish arrhythmia model harboring the pathogenic human cardiac sodium channel mutation SCN5A-D1275N, that has been robustly associated with a range of cardiac phenotypes, including conduction disease, sinus node dysfunction, atrial and ventricular arrhythmias, and dilated cardiomyopathy in humans and in mice. 23791817

2013

dbSNP: rs137854618
rs137854618
0.020 GeneticVariation BEFREE We identified D1275N in a patient with atrial flutter, atrial standstill, conduction disease, and sinus node dysfunction. 21824921

2011