rs28937317, SCN5A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiac fibrosis
CUI: C1397307
Disease: Cardiac fibrosis
0.010 GeneticVariation BEFREE Our findings revealed for the first time that the LQTS mutation N1325S in SCN5A causes cardiac fibrosis and contractile dysfunction in mice, possibly through cellular mechanisms involving aberrant cardiomyocyte apoptosis. 19762097 2011