DisGeNET - a database of gene-disease associations

Cardiomyopathy, Dilated, C0007193

Variant: rs199473161 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

24815523

2014

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.

18048769

2008

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.

17442746

2007

dbSNP:

rs199473161

SCN5A

0.700

GeneticVariation

CLINVAR

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

15671429

2005