DisGeNET - a database of gene-disease associations

Long QT Syndrome, C0023976

Variant: rs199472687 ×

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:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

UniProt: a hub for protein information.

25348405

2015

dbSNP:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.

24818999

2014

dbSNP:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

Long-term follow-up of a pediatric cohort with short QT syndrome.

23375927

2013

dbSNP:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

Selective targeting of gain-of-function KCNQ1 mutations predisposing to atrial fibrillation.

24006450

2013

dbSNP:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

19841300

2009

dbSNP:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

18599533

2008

dbSNP:

rs199472687

KCNQ1

0.700

CausalMutation

CLINVAR

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

16109388

2005