rs41310765, SCN5A

N. diseases: 5
Disease: LONG QT SYNDROME 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
LONG QT SYNDROME 3
CUI: C1859062
Disease: LONG QT SYNDROME 3
0.010 GeneticVariation BEFREE This study shows LQT3 features associated with an A1180V cardiac sodium channel mutation, expanding the spectrum of phenotypes resulting from this mutation in which biophysical study has shown a persistent late Na(+) current. 23963187 2014