DisGeNET - a database of gene-disease associations

Brugada Syndrome (disorder), C1142166

Variant: rs794728914 ×

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:

rs794728914

SCN5A

0.700

CausalMutation

CLINVAR

The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.

22885917

2012

dbSNP:

rs794728914

SCN5A

0.700

CausalMutation

CLINVAR

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

20129283

2010

dbSNP:

rs794728914

SCN5A

0.700

CausalMutation

CLINVAR

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

19251209

2009

dbSNP:

rs794728914

SCN5A

0.700

CausalMutation

CLINVAR

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

14961552

2003