DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs749697698 ×

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:

rs749697698

SCN5A

0.700

GeneticVariation

CLINVAR

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

19716085

2009

dbSNP:

rs749697698

SCN5A

0.700

GeneticVariation

CLINVAR

[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

17081365

2006

dbSNP:

rs749697698

SCN5A

0.700

GeneticVariation

CLINVAR

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

10973849

2000