rs137854608, SCN5A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. 23994779 2013
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 12569159 2003
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. 12574143 2003
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 11804990 2002
Hereditary bundle branch system defect
CUI: C1879286
Disease: Hereditary bundle branch system defect
0.700 GeneticVariation UNIPROT A sodium-channel mutation causes isolated cardiac conduction disease. 11234013 2001
Irritable Bowel Syndrome
CUI: C0022104
Disease: Irritable Bowel Syndrome
0.010 GeneticVariation BEFREE In conclusion, the G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of IBS. 19056759 2009